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
DNAH9
(HGNC:2953)
 Moderate Moderate Moderate Strong Strong Strong
DNAH6
(HGNC:2951)
 Moderate Strong Moderate Moderate Moderate Moderate
EARS2
(HGNC:29419)
 Moderate Strong Moderate Moderate Strong Strong
TET1
(HGNC:29484)
 Weak Weak Weak Weak Weak Weak
GPSM2
(HGNC:29501)
 Strong Strong Moderate Strong Strong Strong
ROGDI
(HGNC:29478)
 Strong Strong Moderate Strong Strong Strong
DNA2
(HGNC:2939)
 Moderate Moderate Moderate Strong Moderate Moderate
ASXL3
(HGNC:29357)
 Strong Strong Moderate Strong Strong Strong
DNAH1
(HGNC:2940)
 Moderate Moderate Moderate Strong Strong Moderate
MYSM1
(HGNC:29401)
 Strong Strong Moderate Moderate Strong Strong
EPG5
(HGNC:29331)
 Strong Strong Moderate Strong Strong Strong
DMRT1
(HGNC:2934)
 Moderate Moderate Moderate Moderate Moderate Strong
WDR35
(HGNC:29250)
 Strong Strong Moderate Strong Strong Strong
DMP1
(HGNC:2932)
 Strong Strong Moderate Strong Strong Strong
SH3PXD2B
(HGNC:29242)
 Strong Strong Moderate Moderate Strong Strong
USP53
(HGNC:29255)
 Strong Moderate Moderate Strong Strong Strong
TBC1D24
(HGNC:29203)
 Strong Moderate Moderate Strong Moderate Strong
ADSL
(HGNC:291)
 Strong Strong Moderate Strong Strong Strong
FAN1
(HGNC:29170)
 Strong Strong Moderate Strong Strong Strong
DLX5
(HGNC:2918)
 Moderate Moderate Moderate Moderate Moderate Moderate
Showing 1221–1240 of 2035