Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
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| Gene |
Allelic Consistency |
Phenotypic Consistency |
Penetrance |
Ethnic Diversity |
Inheritance Consistency |
Mechanism of disease |
Actions |
|
GHSR
(HGNC:4267)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
GFI1B
(HGNC:4238)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
GDF1
(HGNC:4214)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
GALNT3
(HGNC:4125)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ISG15
(HGNC:4053)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
FYN
(HGNC:4037)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
FUBP1
(HGNC:4004)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
KCNJ18
(HGNC:39080)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
IGLL5
(HGNC:38476)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
FOLH1
(HGNC:3788)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
TMEM231
(HGNC:37234)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FIBP
(HGNC:3705)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
FHL1
(HGNC:3702)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
FGF19
(HGNC:3675)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
FGF13
(HGNC:3670)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
MYOF
(HGNC:3656)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
FDXR
(HGNC:3642)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
AK2
(HGNC:362)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FCN3
(HGNC:3625)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FAT2
(HGNC:3596)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
|