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
KCNQ3
(HGNC:6297)
 Moderate Moderate Moderate Moderate Moderate Strong
KCNK4
(HGNC:6279)
 Strong Strong Moderate Moderate Strong Strong
KCNE3
(HGNC:6243)
 Weak Weak Weak Moderate Weak Weak
ITPR3
(HGNC:6182)
 Strong Moderate Moderate Moderate Strong Strong
ITGA7
(HGNC:6143)
 Moderate Moderate Weak Moderate Moderate Moderate
IRF3
(HGNC:6118)
 Moderate Moderate Weak Weak Moderate Moderate
INPP4B
(HGNC:6075)
 Weak Weak Weak Weak Weak Weak
IMPG1
(HGNC:6055)
 Strong Strong Moderate Weak Moderate Moderate
APOA4
(HGNC:602)
 Moderate Strong Weak Weak Moderate Moderate
APOA2
(HGNC:601)
 Moderate Strong Moderate Weak Moderate Strong
IL2RB
(HGNC:6009)
 Moderate Strong Moderate Weak Strong Strong
IGSF3
(HGNC:5950)
 Moderate Strong Weak Weak Moderate Moderate
IGLL1
(HGNC:5870)
 Moderate Strong Weak Weak Moderate Moderate
IGL
(HGNC:5853)
 Weak Weak Weak Weak Weak Weak
AP4S1
(HGNC:575)
 Strong Strong Moderate Moderate Moderate Strong
AP4E1
(HGNC:573)
 Moderate Moderate Moderate Strong Moderate Moderate
AP4B1
(HGNC:572)
 Strong Strong Moderate Strong Strong Strong
IGK
(HGNC:5715)
 Weak Weak Weak Weak Weak Weak
AP3B2
(HGNC:567)
 Moderate Moderate Moderate Moderate Strong Moderate
AP1S1
(HGNC:559)
 Strong Strong Moderate Strong Strong Strong
Showing 121–140 of 2035