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 |
|
HOGA1
(HGNC:25155)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CTNND1
(HGNC:2515)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
ADAT3
(HGNC:25151)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
LRSAM1
(HGNC:25135)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
CSTB
(HGNC:2482)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
OTULIN
(HGNC:25118)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Strong
|
|
|
DOT1L
(HGNC:24948)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
CRYGC
(HGNC:2410)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
WWTR1
(HGNC:24042)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
NECAP1
(HGNC:24539)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
FAM111A
(HGNC:24725)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
MOGS
(HGNC:24862)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
CSNK2A1
(HGNC:2457)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
FAM83H
(HGNC:24797)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
NPRL2
(HGNC:24969)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
FLVCR1
(HGNC:24682)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
LARP7
(HGNC:24912)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZC4H2
(HGNC:24931)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FIGLA
(HGNC:24669)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
NHLRC2
(HGNC:24731)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|