| 1 |
 |
Apbb2
|
0.000
|
Dionysis
|
5 |
66298703-66618784 bp (-)
|
66452250 |
Autosomal Recessive (1;4)
Autosomal Semidominant (2;8) |
0.540 |
2021-11-30
Diantha La Vine
|
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - increased
|
A ⇒ T |
missense |
|
probably damaging |
0.986 |
| 2 |
|
Apbb2
|
0.000
|
bund
|
5 |
66298703-66618784 bp (-)
|
66400255 |
Autosomal Recessive (1;3) |
failed initial filter |
2021-11-30
Diantha La Vine
|
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
|
T ⇒ A |
missense |
|
probably damaging |
0.996 |
| 3 |
|
Ap3d1
|
0.941
|
christian
|
10 |
80706956-80742264 bp (-)
|
80730042 |
Autosomal Semidominant (1;0) |
failed initial filter |
2021-11-22
Diantha La Vine
|
pigmentation
skin/coat/nails
|
G ⇒ T |
missense |
|
probably damaging |
1.000 |
| 4 |
|
Ap3b1
|
0.395
|
bullet_gray
|
13 |
94358960-94566317 bp (+)
|
94451087 |
Unknown (2;0) |
no linkage results |
2021-11-22
Diantha La Vine
|
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
|
G ⇒ T |
critical splice donor site |
1 bp |
probably benign |
|
| 5 |
|
Ap3b1
|
0.395
|
bella
|
13 |
94358960-94566317 bp (+)
|
94528257 |
Autosomal Recessive (1;4) |
0.488 |
2021-11-22
Diantha La Vine
|
pigmentation
skin/coat/nails
|
A ⇒ T |
missense |
|
unknown |
|
| 6 |
|
Ank1
|
0.755
|
Hema6
|
8 |
22974844-23150497 bp (+)
|
23097638 |
Unknown |
no linkage results |
2021-11-17
Diantha La Vine
|
anemia
|
T ⇒ C |
intron |
|
probably benign |
|
| 7 |
|
Alx4
|
0.513
|
goofy
|
2 |
93642384-93681339 bp (+)
|
93675369 |
Unknown |
no linkage results |
2021-11-17
Diantha La Vine
|
craniofacial
limbs/digits/tail phenotype
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 8 |
|
Alms1
|
0.000
|
portly
|
6 |
85587531-85702753 bp (+)
|
85619712 |
Autosomal Recessive (3;14) |
0.829 |
2021-11-17
Diantha La Vine
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
|
T ⇒ C |
missense |
|
probably benign |
0.004 |
| 9 |
|
Alms1
|
0.000
|
gut_check
|
6 |
85587531-85702753 bp (+)
|
85620369 |
Autosomal Recessive (3;13) |
failed initial filter |
2021-11-17
Diantha La Vine
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
|
A ⇒ T |
nonsense |
|
probably null |
|
| 10 |
|
Alms1
|
0.000
|
fatty
|
6 |
85587531-85702753 bp (+)
|
85627934 |
Autosomal Dominant (1;1)
Autosomal Recessive (17;133), Autosomal Semidominant (1;1) |
0.980 |
2021-11-17
Diantha La Vine
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
NK cell response - decreased
NK killing - decreased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 11 |
|
Alms1
|
0.000
|
earthquake
|
6 |
85587531-85702753 bp (+)
|
85628735 |
Autosomal Recessive (33;229) |
0.971 |
2021-11-17
Diantha La Vine
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
|
A ⇒ T |
nonsense |
|
probably null |
|
| 12 |
|
Alms1
|
0.000
|
ares2
|
6 |
85587531-85702753 bp (+)
|
85677990 |
Autosomal Recessive (9;66)
Autosomal Semidominant (2;9) |
0.488 |
2021-11-16
Diantha La Vine
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
resistance to B10-F16 melanoma - decreased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 13 |
|
Alms1
|
0.000
|
ares
|
6 |
85587531-85702753 bp (+)
|
85621275 |
Autosomal Recessive (2;10)
Autosomal Semidominant (1;4) |
0.970 |
2021-11-16
Diantha La Vine
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
|
C ⇒ T |
nonsense |
|
probably null |
|
| 14 |
|
Aicda
|
0.000
|
bellezza
|
6 |
122553801-122564180 bp (+)
|
122561185 |
Autosomal Dominant (2;8)
Autosomal Recessive (8;44), Autosomal Semidominant (1;9) |
0.808 |
2021-11-15
Diantha La Vine
|
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
OVA-specific IgE - decreased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
|
A ⇒ G |
missense |
|
probably benign |
0.029 |
| 15 |
|
Adra2a
|
0.000
|
splenda2
|
19 |
54045182-54048982 bp (+)
|
54046639 |
Autosomal Recessive (4;19)
Autosomal Semidominant (1;4) |
0.836 |
2021-11-10
Diantha La Vine
|
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 16 |
|
Adra2a
|
0.000
|
splenda
|
19 |
54045182-54048982 bp (+)
|
54046495 |
Autosomal Recessive (7;37)
Autosomal Semidominant (2;11) |
0.693 |
2021-11-10
Diantha La Vine
|
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 17 |
|
Adgrf5
|
0.000
|
sweetie
|
17 |
43360451-43459557 bp (+)
|
43450983 |
Autosomal Recessive (1;5) |
0.034 |
2021-11-10
Diantha La Vine
|
30 min GTT hyperglycemic
|
A ⇒ T |
missense |
|
probably damaging |
0.957 |
| 18 |
|
Adgre1
|
0.158
|
Scallion
|
17 |
57358686-57483529 bp (+)
|
57401977 |
Autosomal Semidominant (1;10) |
0.316 |
2021-11-01
Diantha La Vine
|
FACS macrophages - decreased
|
A ⇒ G |
missense |
|
possibly damaging |
0.899 |
| 19 |
|
Adgre1
|
0.158
|
Onion
|
17 |
57358686-57483529 bp (+)
|
57402841 |
Unknown |
no linkage results |
2021-11-01
Diantha La Vine
|
FACS macrophages - decreased
|
T ⇒ A |
nonsense |
|
probably null |
|
| 20 |
|
Adgre1
|
0.158
|
lomax
|
17 |
57358686-57483529 bp (+)
|
57402811 |
Autosomal Recessive (1;7) |
0.438 |
2021-11-01
Diantha La Vine
|
FACS macrophages - decreased
|
A ⇒ G |
missense |
|
unknown |
|
| 21 |
|
Adgre1
|
0.158
|
F480
|
17 |
57358686-57483529 bp (+)
|
57444063 |
Unknown |
no linkage results |
2021-11-01
Diantha La Vine
|
immune system
normal phenotype
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 22 |
|
Tlr9
|
0.089
|
Cpg1
|
9 |
106222598-106226883 bp (+)
|
106225007 |
Unknown (3;0) |
no linkage results |
2021-10-28
Stephen Lyon
|
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 23 |
|
Tlr9
|
0.089
|
Cpg11
|
9 |
106222598-106226883 bp (+)
|
106224586 |
Unknown (1;0) |
no linkage results |
2021-10-28
Stephen Lyon
|
TLR signaling defect: TNF production by macrophages
|
T ⇒ C |
missense |
|
probably damaging |
0.999 |
| 24 |
|
Adamts20
|
0.110
|
whopper
|
15 |
94270163-94465418 bp (-)
|
94347810 |
Autosomal Recessive (1;6) |
0.174 |
2021-10-21
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ A |
missense |
|
probably damaging |
1.000 |
| 25 |
|
Adamts20
|
0.110
|
wash
|
15 |
94270163-94465418 bp (-)
|
94347670 |
Autosomal Recessive (1;7) |
0.482 |
2021-10-21
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ A |
nonsense |
|
probably null |
|
| 26 |
|
Adamts20
|
0.110
|
splotch2
|
15 |
94270163-94465418 bp (-)
|
94335561 |
Unknown |
no linkage results |
2021-10-21
Diantha La Vine
|
pigmentation
skin/coat/nails
|
A ⇒ T |
intron |
8 bp |
probably benign |
|
| 27 |
|
Adamts20
|
0.110
|
poliwag
|
15 |
94270163-94465418 bp (-)
|
94394622 |
Unknown |
no linkage result |
2021-10-21
Diantha La Vine
|
|
A ⇒ T |
nonsense |
|
probably null |
|
| 28 |
|
Adamts20
|
0.110
|
pikachu
|
15 |
94270163-94465418 bp (-)
|
94345990 |
Autosomal Recessive (1;1) |
failed initial filter |
2021-10-21
Diantha La Vine
|
pigmentation
skin/coat/nails
|
A ⇒ T |
missense |
|
probably damaging |
1.000 |
| 29 |
|
Adamts20
|
0.110
|
panda
|
15 |
94270163-94465418 bp (-)
|
94326699 |
Unknown |
no linkage results |
2021-10-21
Diantha La Vine
|
pigmentation
skin/coat/nails
|
G ⇒ T |
intron |
|
probably benign |
|
| 30 |
|
Adamts20
|
0.110
|
meowth
|
15 |
94270163-94465418 bp (-)
|
94331458 |
Autosomal Recessive (1;1) |
failed initial filter |
2021-10-21
Diantha La Vine
|
pigmentation
skin/coat/nails
|
A ⇒ C |
missense |
|
probably damaging |
1.000 |
| 31 |
|
Adamts20
|
0.110
|
nidoking
|
15 |
94270163-94465418 bp (-)
|
94403445 |
Autosomal Recessive (1;12) |
0.535 |
2021-10-21
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
0.999 |
| 32 |
|
Adamts20
|
0.110
|
jack_white
|
15 |
94270163-94465418 bp (-)
|
|
Unknown |
no linkage results |
2021-10-19
Diantha La Vine
|
pigmentation
skin/coat/nails
|
|
unclassified |
|
|
|
| 33 |
|
Adamts20
|
0.110
|
buckeye
|
15 |
94270163-94465418 bp (-)
|
94341087 |
Unknown (1;0) |
failed initial filter |
2021-10-19
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
0.999 |
| 34 |
|
Adam17
|
0.938
|
wavedx
|
12 |
21323509-21373632 bp (-)
|
21340750 |
Unknown |
no linkage results |
2021-10-19
Diantha La Vine
|
skin/coat/nails
vision/eye
|
A ⇒ T |
missense |
|
probably damaging |
1.000 |
| 35 |
|
a
|
0.178
|
killer_whale
|
2 |
154791402-155051012 bp (+)
|
|
Unknown |
no linkage results |
2021-10-06
Diantha La Vine
|
pigmentation
skin/coat/nails
|
|
unclassified |
|
|
|
| 36 |
|
a
|
0.178
|
garfield
|
2 |
154791402-155051012 bp (+)
|
|
Unknown |
no linkage results |
2021-10-06
Diantha La Vine
|
pigmentation
skin/coat/nails
|
|
unclassified |
|
|
|
| 37 |
|
a
|
0.178
|
yellowbelly
|
2 |
154791402-155051012 bp (+)
|
|
Unknown |
no linkage results |
2021-10-06
Diantha La Vine
|
pigmentation
skin/coat/nails
|
|
unclassified |
|
|
|
| 38 |
|
Ctsl
|
1.000
|
patch
|
13 |
64359337-64370890 bp (-)
|
64366623 |
Autosomal Recessive (13;265)
Autosomal Semidominant (1;5) |
0.975 |
2021-09-24
External Program
|
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
FACS T cells - decreased
skin/coat/nails
|
T ⇒ A |
nonsense |
|
probably null |
|
| 39 |
|
Tcf12
|
1.000
|
Poorly3
|
9 |
71842688-72111871 bp (-)
|
72015636 |
Autosomal Recessive (2;17)
Autosomal Semidominant (15;83) |
0.975 |
2021-04-23
External Program
|
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
A ⇒ G |
critical splice donor site |
2 bp |
probably null |
|
| 40 |
|
Bcl10
|
0.000
|
Derek
|
3 |
145922804-145934356 bp (+)
|
145930587 |
Autosomal Recessive (14;151)
Autosomal Semidominant (2;11) |
0.917 |
2021-03-22
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - decreased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - increased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS neutrophils - decreased
FACS NK cells - decreased
FACS T cells - increased
IgG1 response to a Cysteine Protease (Papain) - decreased
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
A ⇒ G |
missense |
|
probably damaging |
0.999 |
| 41 |
|
Gys2
|
0.206
|
candy_corn
|
6 |
142422613-142473109 bp (-)
|
142456333 |
Autosomal Recessive (2;13) |
0.038 |
2021-03-22
External Program
|
30 min GTT hyperoglycemic (female)
|
T ⇒ C |
missense |
|
probably benign |
0.001 |
| 42 |
|
Irf1
|
0.000
|
Endeka2
|
11 |
53770014-53778374 bp (+)
|
53771322 |
Autosomal Recessive (4;52)
Autosomal Semidominant (15;69) |
0.808 |
2021-02-25
External Program
|
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
|
C ⇒ G |
missense |
|
probably damaging |
1.000 |
| 43 |
|
Atm
|
0.926
|
Tropo
|
9 |
53439149-53536740 bp (-)
|
53531648 |
Unknown (2;0) |
no linkage result |
2020-12-09
External Program
|
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 44 |
|
Stk4
|
0.000
|
Sergeant
|
2 |
164070322-164155524 bp (+)
|
164099712 |
Autosomal Recessive (2;10)
Autosomal Semidominant (2;8) |
0.926 |
2020-07-29
External Program
|
FACS B cells - increased
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgM+ B cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
|
A ⇒ G |
missense |
|
probably benign |
0.000 |
| 45 |
|
Rac2
|
0.000
|
Potter
|
15 |
78559167-78572783 bp (-)
|
78570743 |
Autosomal Recessive (3;15)
Autosomal Semidominant (2;11) |
0.912 |
2020-07-29
External Program
|
FACS B cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS IgD+ B cell percentage - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ T |
nonsense |
|
probably null |
|
| 46 |
|
Pi4ka
|
1.000
|
Pia
|
16 |
17280351-17406314 bp (-)
|
17281044 |
Autosomal Recessive (3;18)
Autosomal Semidominant (3;12) |
0.333 |
2020-07-29
External Program
|
FACS CD44+ CD4 T cells - increased
FACS CD44+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
MTT Value of PECs - decreased
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
| 47 |
|
Tap2
|
0.191
|
Palm
|
17 |
34203527-34216321 bp (+)
|
34215940 |
Autosomal Recessive (1;7)
Autosomal Semidominant (1;5) |
0.477 |
2020-07-29
External Program
|
FACS CD4+ T cells - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
C ⇒ A |
missense |
|
possibly damaging |
0.638 |
| 48 |
|
Ebf1
|
0.881
|
Oregano
|
11 |
44617317-45008091 bp (+)
|
44869169 |
Autosomal Recessive (13;92)
Autosomal Semidominant (4;22) |
0.923 |
2020-07-29
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 49 |
|
Mbtps1
|
1.000
|
Muskrat
|
8 |
119508156-119558735 bp (-)
|
119538137 |
Autosomal Dominant (2;2)
Autosomal Recessive (2;9) |
failed initial filter |
2020-07-29
External Program
|
pigmentation
skin/coat/nails
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
| 50 |
|
Bcl3
|
0.000
|
Memorial
|
7 |
19808462-19822770 bp (-)
|
19812484 |
Autosomal Recessive (1;5)
Autosomal Semidominant (1;4) |
0.380 |
2020-07-29
External Program
|
FACS central memory CD8 T cells in CD8 T cells - increased
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 51 |
|
Ifngr1
|
0.000
|
Marigold
|
10 |
19591949-19610229 bp (+)
|
19601485 |
Unknown (1;0)
Autosomal Dominant (3;12), Autosomal Recessive (2;14) |
0.303 |
2020-07-29
External Program
|
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - decreased
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
|
T ⇒ C |
critical splice donor site |
|
probably null |
|
| 52 |
|
Pax5
|
1.000
|
Glacier
|
4 |
44524757-44710487 bp (-)
|
44679494 |
Autosomal Recessive (3;25)
Autosomal Semidominant (1;7) |
0.906 |
2020-07-29
External Program
|
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
|
T ⇒ A |
missense |
|
probably damaging |
0.996 |
| 53 |
|
Tmprss6
|
0.070
|
Ekans
|
15 |
78439667-78468634 bp (-)
|
78459427 |
Autosomal Recessive (1;10)
Autosomal Semidominant (1;4) |
0.349 |
2020-07-29
External Program
|
FACS T cells - decreased
skin/coat/nails
|
T ⇒ A |
splice site |
|
probably null |
|
| 54 |
|
Prkdc
|
0.951
|
Daffy
|
16 |
15637866-15842235 bp (+)
|
15829697 |
Autosomal Recessive (1;5)
Autosomal Semidominant (1;4) |
0.662 |
2020-07-29
External Program
|
FACS CD44+ CD4 MFI - increased
|
A ⇒ T |
missense |
|
possibly damaging |
0.861 |
| 55 |
|
Tlr4
|
0.000
|
Cruyff
|
4 |
66827584-66930284 bp (+)
|
66840326 |
Autosomal Recessive (3;31)
Autosomal Semidominant (3;16) |
0.943 |
2020-07-29
External Program
|
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 56 |
|
Pik3r1
|
0.000
|
Astro_boy
|
13 |
101680563-101768217 bp (-)
|
101701732 |
Autosomal Recessive (2;12)
Autosomal Semidominant (1;4) |
0.086 |
2020-07-29
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
resistance to B10-F16 melanoma - decreased
|
A ⇒ T |
missense |
|
probably damaging |
1.000 |
| 57 |
|
Dck
|
0.000
|
rosa
|
5 |
88764996-88783281 bp (+)
|
88772723 |
Autosomal Recessive (19;119) |
0.980 |
2020-07-01
External Program
|
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 58 |
|
Inpp5d
|
0.911
|
styx
|
1 |
87620312-87720507 bp (+)
|
87669784 |
Unknown (1;0) |
no linkage results |
2020-06-05
Thomas Gallagher
|
CTL killing - decreased
growth/size
hematopoietic system
homeostasis/metabolism
immune system
life span-post-weaning/aging
respiratory system
|
T ⇒ A |
critical splice donor site |
2 bp |
probably benign |
|
| 59 |
|
Inpp5d
|
0.911
|
sailing
|
1 |
87620312-87720507 bp (+)
|
87705964 |
Autosomal Dominant (2;10)
Autosomal Recessive (3;21) |
0.874 |
2020-06-05
Thomas Gallagher
|
125-03 Response - increased
FACS IgM MFI - decreased
FACS NK cells - decreased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 60 |
|
Inpp5d
|
0.911
|
Orange
|
1 |
87620312-87720507 bp (+)
|
87697546 |
Autosomal Dominant (3;10)
Autosomal Semidominant (4;19) |
0.917 |
2020-06-05
Thomas Gallagher
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
| 61 |
|
Ikzf1
|
0.000
|
Herrscher
|
11 |
11685003-11772926 bp (+)
|
11768961 |
Autosomal Dominant (19;145) |
0.979 |
2020-06-04
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - increased
FACS T cells - increased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 62 |
|
Inpp5d
|
0.911
|
pantone
|
1 |
87620312-87720507 bp (+)
|
87699675 |
Autosomal Recessive (70;565)
Autosomal Semidominant (4;27) |
0.948 |
2020-05-29
Thomas Gallagher
|
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Fore Hip Distance (AI) - decreased
Bone: Fore Hip Distance (AI, female) - decreased
Bone: Fore Hip Distance (AI, male) - decreased
Bone: Hind Hip Distance (AI) - decreased
Bone: Hind Hip Distance (AI, female) - decreased
Bone: Hind Hip Distance (AI, male) - decreased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual, male) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
|
T ⇒ A |
missense |
|
probably damaging |
0.999 |
| 63 |
|
Inpp5d
|
0.911
|
americas
|
1 |
87620312-87720507 bp (+)
|
87715142 |
Autosomal Recessive (5;56) |
0.606 |
2020-05-29
Thomas Gallagher
|
dsDNA induced type I IFN production - increased
impaired response to dsDNA- type I IFN production by macrophages
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
|
C ⇒ A |
missense |
|
probably damaging |
0.998 |
| 64 |
|
Wdr41
|
0.000
|
gogi
|
13 |
94976344-95023314 bp (+)
|
95015217 |
Autosomal Recessive (12;77)
Autosomal Semidominant (3;16) |
0.960 |
2020-05-12
External Program
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK1.1+ T cells - increased
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to R848
|
T ⇒ A |
critical splice donor site |
|
probably null |
|
| 65 |
|
Pik3r1
|
0.000
|
anubis
|
13 |
101680563-101768217 bp (-)
|
101702776 |
Unknown (3;0)
Autosomal Recessive (9;54), Autosomal Semidominant (1;4) |
0.897 |
2020-02-14
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
OVA-specific IgE - increased
|
A ⇒ T |
nonsense |
|
probably null |
|
| 66 |
|
Smcr8
|
0.000
|
patriot
|
11 |
60777524-60788287 bp (+)
|
60778032 |
Autosomal Recessive (7;38)
Autosomal Semidominant (1;6) |
0.957 |
2020-02-04
External Program
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 67 |
|
Lrba
|
0.000
|
oscar
|
3 |
86224680-86782692 bp (+)
|
86350304 |
Autosomal Recessive (2;15) |
0.904 |
2020-02-04
External Program
|
Body Weight (Female) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1b cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD11c+ DCs - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 68 |
|
Jak3
|
0.569
|
thistle
|
8 |
71676296-71690575 bp (+)
|
71685383 |
Unknown (2;0)
Autosomal Recessive (31;312), Autosomal Semidominant (1;4) |
0.973 |
2020-01-15
Eva Marie Y. Moresco
|
Body Weight (DSS Female) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
IgE response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
impaired response to dsDNA- type I IFN production by macrophages
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
|
A ⇒ T |
critical splice acceptor site |
|
probably null |
|
| 69 |
|
Syk
|
1.000
|
Sisyphus
|
13 |
52583173-52648792 bp (+)
|
52640790 |
Unknown (4;0)
Autosomal Dominant (2;10) |
0.391 |
2020-01-15
Eva Marie Y. Moresco
|
FACS B cells - increased
IgE response to a Cysteine Protease (Papain) - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 70 |
|
Lig4
|
1.000
|
posey
|
8 |
9969049-9977686 bp (-)
|
9972955 |
Autosomal Recessive (16;134)
Autosomal Semidominant (2;8) |
0.976 |
2019-12-05
External Program
|
FACS B cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 71 |
|
Cd4
|
0.000
|
craw
|
6 |
124864692-124888221 bp (-)
|
124867746 |
Unknown (7;0) |
no linkage results |
2019-11-12
Bruce Beutler
|
FACS CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
|
G ⇒ A |
nonsense |
|
probably null |
|
| 72 |
|
Pparg
|
1.000
|
Energy
|
6 |
115360951-115490399 bp (+)
|
115451044 |
Unknown (4;0)
Autosomal Dominant (5;20) |
0.308 |
2019-11-06
Bruce Beutler
|
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Z-score) - decreased
growth/size
|
G ⇒ T |
missense |
|
probably damaging |
1.000 |
| 73 |
|
Elmo1
|
0.000
|
Debil
|
13 |
20090596-20608353 bp (+)
|
20373161 |
Autosomal Dominant (2;10)
Autosomal Recessive (1;7), Autosomal Semidominant (3;11) |
0.829 |
2019-10-29
Diantha La Vine
|
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS NK cells - decreased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 74 |
|
Ryr2
|
1.000
|
Arruda2
|
13 |
11553102-12106945 bp (-)
|
11879496 |
Autosomal Recessive (4;16)
Autosomal Semidominant (3;23) |
no linkage result |
2019-10-29
Anne Murray
|
|
G ⇒ T |
missense |
|
probably damaging |
0.998 |
| 75 |
|
Klhl6
|
0.085
|
cerulean
|
16 |
19946496-19983037 bp (-)
|
19957218 |
Autosomal Recessive (8;130)
Autosomal Semidominant (6;41) |
0.900 |
2019-10-25
Bruce Beutler
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
total IgE level - increased
|
G ⇒ A |
nonsense |
|
probably null |
|
| 76 |
|
Il2rb
|
0.078
|
Whistles
|
15 |
78479256-78495271 bp (-)
|
78481936 |
Autosomal Dominant (1;3)
Autosomal Recessive (2;8), Autosomal Semidominant (5;21) |
0.638 |
2019-10-23
Diantha La Vine
|
DSS: sensitive day 10
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
|
T ⇒ A |
missense |
|
possibly damaging |
0.721 |
| 77 |
|
Myo15
|
0.000
|
Typhoon
|
11 |
60469339-60528369 bp (+)
|
60487425 |
Autosomal Dominant (1;7)
Autosomal Recessive (1;5) |
0.156 |
2019-10-23
Anne Murray
|
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
| 78 |
|
Pcdh15
|
0.000
|
Tortilla
|
10 |
73099342-74649737 bp (+)
|
74379417 |
Autosomal Recessive (2;10)
Autosomal Semidominant (2;9) |
0.454 |
2019-10-23
Diantha La Vine
|
behavior/neurological
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
OVA-specific IgE after 2nd OVA/Alum - increased
|
G ⇒ T |
splice site |
|
probably null |
|
| 79 |
|
Prkcd
|
0.502
|
Rigged
|
14 |
30595354-30626210 bp (-)
|
30610301 |
Autosomal Recessive (1;5)
Autosomal Semidominant (2;9) |
0.891 |
2019-10-23
Diantha La Vine
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS NK cells - decreased
|
A ⇒ G |
start codon destroyed |
|
probably null |
0.988 |
| 80 |
|
Syk
|
1.000
|
Poppy
|
13 |
52583173-52648792 bp (+)
|
52640733 |
Unknown (2;0)
Autosomal Dominant (2;2), Autosomal Recessive (2;2), Autosomal Semidominant (1;3) |
failed initial filter |
2019-10-23
Anne Murray
|
FACS B cells - decreased
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to MALP2
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 81 |
|
Prkce
|
0.000
|
Pinnacles
|
17 |
86167785-86657919 bp (+)
|
86476851 |
Autosomal Semidominant (1;5) |
0.034 |
2019-10-23
Anne Murray
|
FACS NK cells - decreased
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
| 82 |
|
Dst
|
0.346
|
Phelps
|
1 |
33908225-34308661 bp (+)
|
34223795 |
Autosomal Semidominant (1;1) |
failed initial filter |
2019-10-23
Anne Murray
|
behavior/neurological
FACS B1a cells in B1 cells - increased
FACS CD11c+ DCs - increased
growth/size
|
T ⇒ A |
splice site |
9 bp |
probably null |
|
| 83 |
|
Zbtb1
|
0.766
|
Old_friend
|
12 |
76370266-76396950 bp (+)
|
76385891 |
Autosomal Recessive (1;6)
Autosomal Semidominant (2;10) |
0.099 |
2019-10-23
Anne Murray
|
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS NK1.1+ T cells - increased
|
C ⇒ T |
missense |
|
probably damaging |
0.965 |
| 84 |
|
Ptpn6
|
0.540
|
Naphthalene
|
6 |
124720707-124738714 bp (-)
|
124721789 |
Autosomal Dominant (1;5)
Autosomal Recessive (1;4), Autosomal Semidominant (1;5) |
0.278 |
2019-10-23
Anne Murray
|
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ T MFI - increased
|
T ⇒ C |
missense |
|
probably benign |
0.423 |
| 85 |
|
Trpc1
|
0.122
|
Magnified
|
9 |
95705082-95750375 bp (-)
|
95726437 |
Autosomal Recessive (6;28)
Autosomal Semidominant (6;34) |
0.550 |
2019-10-23
Diantha La Vine
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Bone: Femur Length (AI, residual, female) - increased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 86 |
|
Nlrc4
|
0.141
|
Inwood
|
17 |
74426295-74459108 bp (-)
|
74445630 |
Autosomal Semidominant (1;3) |
failed initial filter |
2019-10-23
Peter Jurek
|
Nlrc4 inflammasome: low response
|
A ⇒ G |
missense |
|
probably damaging |
0.999 |
| 87 |
|
Rel
|
0.000
|
Horus
|
11 |
23736847-23770970 bp (-)
|
23753215 |
Autosomal Recessive (5;30)
Autosomal Semidominant (5;25) |
0.956 |
2019-10-23
Diantha La Vine
|
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
|
A ⇒ C |
critical splice donor site |
|
probably null |
|
| 88 |
|
Kitl
|
0.322
|
Gregory
|
10 |
100015630-100100416 bp (+)
|
100076906 |
Unknown (1;0)
Autosomal Dominant (4;11) |
failed initial filter |
2019-10-23
Anne Murray
|
pigmentation
skin/coat/nails
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
| 89 |
|
Rab38
|
0.458
|
Fenrir
|
7 |
88430273-88491572 bp (+)
|
88450541 |
Autosomal Semidominant (1;5) |
0.548 |
2019-10-23
Anne Murray
|
pigmentation
skin/coat/nails
|
T ⇒ A |
missense |
|
probably damaging |
0.995 |
| 90 |
|
Hps3
|
0.160
|
Blue
|
3 |
19995945-20035315 bp (-)
|
20030796 |
Autosomal Semidominant (1;1) |
failed initial filter |
2019-10-23
Anne Murray
|
pigmentation
skin/coat/nails
|
A ⇒ C |
missense |
|
probably damaging |
1.000 |
| 91 |
|
Ryr2
|
1.000
|
Arruda3
|
13 |
11553102-12106945 bp (-)
|
11555448 |
Autosomal Dominant (1;4) |
no linkage result |
2019-10-23
Anne Murray
|
|
T ⇒ A |
missense |
|
possibly damaging |
0.907 |
| 92 |
|
Cd8a
|
0.066
|
Alfalfa
|
6 |
71373427-71379173 bp (+)
|
71373728 |
Autosomal Dominant (1;4)
Autosomal Recessive (7;49), Autosomal Semidominant (8;72) |
0.916 |
2019-10-23
Anne Murray
|
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
MCMV susceptibility
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
|
T ⇒ A |
missense |
|
probably damaging |
0.989 |
| 93 |
|
Lyst
|
0.375
|
50-cal
|
13 |
13590397-13778803 bp (+)
|
13708212 |
Autosomal Recessive (6;68) |
0.633 |
2019-10-14
Diantha La Vine
|
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS pDCs - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
MCMV susceptibility
pigmentation
skin/coat/nails
|
T ⇒ A |
critical splice donor site |
2 bp |
probably null |
|
| 94 |
|
Prkcb
|
0.000
|
tigris
|
7 |
122288751-122634402 bp (+)
|
122424977 |
Autosomal Recessive (2;9)
Autosomal Semidominant (1;4) |
0.954 |
2019-10-14
Diantha La Vine
|
FACS CD8+ T cells - increased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
A ⇒ T |
missense |
|
probably damaging |
1.000 |
| 95 |
|
Ptpn6
|
0.540
|
farfalla_notturna
|
6 |
124720707-124738714 bp (-)
|
124732435 |
Autosomal Recessive (17;126) |
0.957 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 96 |
|
Zeb1
|
0.922
|
serpens
|
18 |
5591860-5775467 bp (+)
|
5772455 |
Autosomal Recessive (1;3) |
failed initial filter |
2019-09-04
Anne Murray
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
T ⇒ A |
missense |
|
probably damaging |
0.998 |
| 97 |
|
Slc9a8
|
0.000
|
costello
|
2 |
167421712-167477000 bp (+)
|
167451296 |
Autosomal Recessive (1;5) |
0.429 |
2019-09-04
External Program
|
DSS: sensitive day 7
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 98 |
|
Hps5
|
0.140
|
Titan
|
7 |
46760466-46796064 bp (-)
|
46783469 |
Autosomal Dominant (2;19)
Autosomal Recessive (2;6) |
0.240 |
2019-09-04
Diantha La Vine
|
dsDNA induced type I IFN production - increased
FACS CD11c+ DCs - decreased
FACS IgM MFI - decreased
impaired response to dsDNA- type I IFN production by macrophages
pigmentation
skin/coat/nails
|
A ⇒ G |
critical splice donor site |
2 bp |
probably null |
|
| 99 |
|
Jak3
|
0.569
|
mount_tai
|
8 |
71676296-71690575 bp (+)
|
71683377 |
Autosomal Recessive (28;212)
Autosomal Semidominant (3;15) |
0.975 |
2019-09-04
Diantha La Vine
|
125-03 Response - decreased
FACS B cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS T cells - decreased
MCMV susceptibility
OVA-specific IgE - increased
post-MCMV FACS B cells - decreased
post-MCMV FACS CD11c+ DCs - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - increased
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 100 |
|
Tnfsf13b
|
0.097
|
Frozen
|
8 |
10006467-10039072 bp (+)
|
10031661 |
Autosomal Recessive (6;46)
Autosomal Semidominant (8;93) |
0.800 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ A |
splice site |
5 bp |
probably null |
|
