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
Showing 1781–1800 of 2035