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 |
|
FLAD1
(HGNC:24671)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
EHMT1
(HGNC:24650)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CFHR5
(HGNC:24668)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
VCAN
(HGNC:2464)
|
Strong
|
Strong
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
SIL1
(HGNC:24624)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KANSL1
(HGNC:24565)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
Strong
|
|
|
WDR62
(HGNC:24502)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CHMP2B
(HGNC:24537)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
POC1A
(HGNC:24488)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CHST14
(HGNC:24464)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CSF2RB
(HGNC:2436)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Moderate
|
|
|
CSF2RA
(HGNC:2435)
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
BOLA3
(HGNC:24415)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PHF21A
(HGNC:24156)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
CISD2
(HGNC:24212)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
FAM111B
(HGNC:24200)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
ADCYAP1
(HGNC:241)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
OTUD6B
(HGNC:24281)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ASCC1
(HGNC:24268)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
PTRH2
(HGNC:24265)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|