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 |
|
C19orf12
(HGNC:25443)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
TRMU
(HGNC:25481)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FREM2
(HGNC:25396)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CTSK
(HGNC:2536)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
COQ9
(HGNC:25302)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SLC30A10
(HGNC:25355)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
AHDC1
(HGNC:25230)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CTSD
(HGNC:2529)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC25A46
(HGNC:25198)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CTNND2
(HGNC:2516)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
HOGA1
(HGNC:25155)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CTNND1
(HGNC:2515)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
ADAT3
(HGNC:25151)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
LRSAM1
(HGNC:25135)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
CSTB
(HGNC:2482)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
OTULIN
(HGNC:25118)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
DOT1L
(HGNC:24948)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
CRYGC
(HGNC:2410)
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
WWTR1
(HGNC:24042)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NECAP1
(HGNC:24539)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|