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
AP1S2
(HGNC:560)
 Strong Strong Moderate Moderate Strong Strong
IGHMBP2
(HGNC:5542)
 Moderate Weak Strong Strong Strong Strong
AP2S1
(HGNC:565)
 Strong Strong Moderate Moderate Strong Strong
NOTCH2NLC
(HGNC:53924)
 Moderate Weak Moderate Moderate Strong Strong
IGFBP7
(HGNC:5476)
 Strong Strong Moderate Weak Strong Strong
IGFALS
(HGNC:5468)
 Strong Strong Moderate Strong Strong Strong
ANXA11
(HGNC:535)
 Strong Moderate Weak Strong Moderate Strong
IARS1
(HGNC:5330)
 Moderate Strong Moderate Moderate Strong Strong
HSD17B4
(HGNC:5213)
 Moderate Strong Moderate Strong Strong Strong
HSPA9
(HGNC:5244)
 Moderate Strong Moderate Moderate Strong Strong
DNAJB2
(HGNC:5228)
 Strong Moderate Moderate Moderate Moderate Strong
HSF4
(HGNC:5227)
 Strong Strong Moderate Strong Moderate Moderate
HRG
(HGNC:5181)
 Moderate Moderate Moderate Weak Strong Moderate
HR
(HGNC:5172)
 Strong Strong Moderate Strong Strong Strong
DUX4
(HGNC:50800)
 Weak Weak Weak Weak Weak Weak
HPD
(HGNC:5147)
 Moderate Moderate Weak Strong Moderate Moderate
HOXD13
(HGNC:5136)
 Strong Strong Moderate Strong Strong Strong
HOXC13
(HGNC:5125)
 Strong Strong Moderate Strong Strong Strong
HOXD10
(HGNC:5133)
 Moderate Weak Strong Weak Strong Moderate
HOXA9
(HGNC:5109)
 Moderate Weak Strong Moderate Weak Moderate
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