Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| Gene |
Allelic Consistency |
Phenotypic Consistency |
Penetrance |
Ethnic Diversity |
Inheritance Consistency |
Mechanism of disease |
Actions |
|
GLRB
(HGNC:4329)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
GLE1
(HGNC:4315)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ALOX12B
(HGNC:430)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
GCLC
(HGNC:4311)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
GK
(HGNC:4289)
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
GJB4
(HGNC:4286)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
GJA3
(HGNC:4277)
|
Strong
|
Strong
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
GHRHR
(HGNC:4266)
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GGCX
(HGNC:4247)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GDF6
(HGNC:4221)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
GDF2
(HGNC:4217)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
GCM2
(HGNC:4198)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
GCGR
(HGNC:4192)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
GATM
(HGNC:4175)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
ALDOA
(HGNC:414)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
GAN
(HGNC:4137)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GANAB
(HGNC:4138)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GALE
(HGNC:4116)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ALDH1A3
(HGNC:409)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GABRB1
(HGNC:4081)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|