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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
EPG5
(HGNC:29331)
 Moderate Strong Strong Strong Strong Strong
DMRT1
(HGNC:2934)
 Weak Weak Moderate Moderate Moderate Moderate
WDR35
(HGNC:29250)
 Moderate Weak Strong Strong Strong Strong
DMP1
(HGNC:2932)
 Moderate Moderate Strong Strong Strong Strong
SH3PXD2B
(HGNC:29242)
 Moderate Moderate Moderate Strong Strong Strong
USP53
(HGNC:29255)
 Moderate Moderate Strong Strong Strong Strong
TBC1D24
(HGNC:29203)
 Moderate Weak Moderate Strong Weak Moderate
ADSL
(HGNC:291)
 Weak Moderate Strong Strong Strong Strong
FAN1
(HGNC:29170)
 Moderate Moderate Strong Strong Moderate Strong
DLX5
(HGNC:2918)
 Weak Weak Moderate Strong Weak Strong
SETD1B
(HGNC:29187)
 Moderate Weak Strong Moderate Weak Moderate
ANKRD26
(HGNC:29186)
 Moderate Weak Strong Strong Strong Moderate
DLX3
(HGNC:2916)
 Moderate Weak Moderate Strong Strong Moderate
PLEKHG5
(HGNC:29105)
 Weak Weak Moderate Strong Weak Moderate
DLL4
(HGNC:2910)
 Weak Weak Strong Moderate Moderate Moderate
DLL3
(HGNC:2909)
 Weak Moderate Strong Strong Strong Strong
DDHD2
(HGNC:29106)
 Weak Moderate Strong Strong Strong Strong
TELO2
(HGNC:29099)
 Weak Weak Strong Strong Moderate Moderate
OBSL1
(HGNC:29092)
 Moderate Moderate Strong Strong Strong Strong
SMCHD1
(HGNC:29090)
 Weak Weak Weak Strong Moderate Moderate
Showing 561–580 of 1365