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 |
|
FAM111A
(HGNC:24725)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
MOGS
(HGNC:24862)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CSNK2A1
(HGNC:2457)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
FAM83H
(HGNC:24797)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NPRL2
(HGNC:24969)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Strong
|
|
|
FLVCR1
(HGNC:24682)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
LARP7
(HGNC:24912)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZC4H2
(HGNC:24931)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FIGLA
(HGNC:24669)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NHLRC2
(HGNC:24731)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
FLAD1
(HGNC:24671)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
EHMT1
(HGNC:24650)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CFHR5
(HGNC:24668)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
VCAN
(HGNC:2464)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SIL1
(HGNC:24624)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KANSL1
(HGNC:24565)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
WDR62
(HGNC:24502)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CHMP2B
(HGNC:24537)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
POC1A
(HGNC:24488)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
CHST14
(HGNC:24464)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|