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 |
|
CSF2RB
(HGNC:2436)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CSF2RA
(HGNC:2435)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
BOLA3
(HGNC:24415)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PHF21A
(HGNC:24156)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CISD2
(HGNC:24212)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
FAM111B
(HGNC:24200)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
ADCYAP1
(HGNC:241)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
OTUD6B
(HGNC:24281)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ASCC1
(HGNC:24268)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PTRH2
(HGNC:24265)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
YARS2
(HGNC:24249)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DRC1
(HGNC:24245)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
BMPER
(HGNC:24154)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CRYGD
(HGNC:2411)
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CRYBB1
(HGNC:2397)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
ASXL2
(HGNC:23805)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
BRCC3
(HGNC:24185)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
ABAT
(HGNC:23)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
CRYBB2
(HGNC:2398)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
PACS2
(HGNC:23794)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|