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 |
|
GDF2
(HGNC:4217)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
GCM2
(HGNC:4198)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
GCGR
(HGNC:4192)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Strong
|
|
|
GATM
(HGNC:4175)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
|
|
ALDOA
(HGNC:414)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
GAN
(HGNC:4137)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GANAB
(HGNC:4138)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GALE
(HGNC:4116)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ALDH1A3
(HGNC:409)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
GABRB1
(HGNC:4081)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Strong
|
|
|
GABRB2
(HGNC:4082)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
GABRA5
(HGNC:4079)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
GABPA
(HGNC:4071)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SLC37A4
(HGNC:4061)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GABRA2
(HGNC:4076)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
FZD6
(HGNC:4044)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
ACKR1
(HGNC:4035)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
FXYD2
(HGNC:4026)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ALB
(HGNC:399)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
KDSR
(HGNC:4021)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Moderate
|
|