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 |
|
YARS2
(HGNC:24249)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DRC1
(HGNC:24245)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
BMPER
(HGNC:24154)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
CRYGD
(HGNC:2411)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CRYBB1
(HGNC:2397)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
ASXL2
(HGNC:23805)
|
Strong
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
|
|
BRCC3
(HGNC:24185)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Strong
|
|
|
ABAT
(HGNC:23)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
CRYBB2
(HGNC:2398)
|
Strong
|
Weak
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
PACS2
(HGNC:23794)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
SLX4
(HGNC:23845)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
|
|
SKIC3
(HGNC:23639)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
CRTAP
(HGNC:2379)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
PGAP3
(HGNC:23719)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CRK
(HGNC:2362)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
CRLF1
(HGNC:2364)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MORC2
(HGNC:23573)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Moderate
|
|
|
MED23
(HGNC:2372)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
DHTKD1
(HGNC:23537)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
VPS13D
(HGNC:23595)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|