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 |
|
ALG11
(HGNC:32456)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
EIF2B1
(HGNC:3257)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
EFNB1
(HGNC:3226)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
EFEMP2
(HGNC:3219)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
EFEMP1
(HGNC:3218)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
CEACAM16
(HGNC:31948)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
EEF1A2
(HGNC:3192)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
NBEAL2
(HGNC:31928)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
AGA
(HGNC:318)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
EDN3
(HGNC:3178)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
EED
(HGNC:3188)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
AFG3L2
(HGNC:315)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SAMD12
(HGNC:31750)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Strong
|
|
|
ECM1
(HGNC:3153)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ECHS1
(HGNC:3151)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TYMP
(HGNC:3148)
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ECEL1
(HGNC:3147)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
E2F4
(HGNC:3118)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
GREB1L
(HGNC:31042)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SECISBP2
(HGNC:30972)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|