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 |
|
SLC25A19
(HGNC:14409)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
GP6
(HGNC:14388)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
GLMN
(HGNC:14373)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
EDARADD
(HGNC:14341)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SCYL1
(HGNC:14372)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SHANK2
(HGNC:14295)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
CRLF2
(HGNC:14281)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
NLGN4X
(HGNC:14287)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
IRF2BPL
(HGNC:14282)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC25A20
(HGNC:1421)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
AUTS2
(HGNC:14262)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ANO3
(HGNC:14004)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
BRPF1
(HGNC:14255)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
JPH3
(HGNC:14203)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
NPRL3
(HGNC:14124)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
HDAC4
(HGNC:14063)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
PRDM13
(HGNC:13998)
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CACNB2
(HGNC:1402)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
SERPINB7
(HGNC:13902)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
PRDM12
(HGNC:13997)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|