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 |
|
KHDC3L
(HGNC:33699)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
AGRN
(HGNC:329)
|
Weak
|
Weak
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
SMPD4
(HGNC:32949)
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
EIF2B3
(HGNC:3259)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
FLG2
(HGNC:33276)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
EIF2B4
(HGNC:3260)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
|
|
DUOXA2
(HGNC:32698)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
EIF2B5
(HGNC:3261)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
EIF2S3
(HGNC:3267)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
EIF2B2
(HGNC:3258)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ALG11
(HGNC:32456)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
EIF2B1
(HGNC:3257)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
EFNB1
(HGNC:3226)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
EFEMP2
(HGNC:3219)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
EFEMP1
(HGNC:3218)
|
Strong
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
|
|
CEACAM16
(HGNC:31948)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|
|
EEF1A2
(HGNC:3192)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
|
|
NBEAL2
(HGNC:31928)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
AGA
(HGNC:318)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
EDN3
(HGNC:3178)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|