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 |
|
GABRB2
(HGNC:4082)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
GABRA5
(HGNC:4079)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
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)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
ACKR1
(HGNC:4035)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
FXYD2
(HGNC:4026)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
ALB
(HGNC:399)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KDSR
(HGNC:4021)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
FUT1
(HGNC:4012)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
FUCA1
(HGNC:4006)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
FTL
(HGNC:3999)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
FSHB
(HGNC:3964)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ALAD
(HGNC:395)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
FOXJ1
(HGNC:3816)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
AKR1D1
(HGNC:388)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
AKR1C3
(HGNC:386)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
FOXF2
(HGNC:3810)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
FOLR1
(HGNC:3791)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|