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
SETD1B
(HGNC:29187)
 Moderate Moderate Moderate Weak Moderate Moderate
ANKRD26
(HGNC:29186)
 Moderate Weak Strong Strong Strong Moderate
DLX3
(HGNC:2916)
 Moderate Moderate Moderate Strong Strong Moderate
PLEKHG5
(HGNC:29105)
 Moderate Strong Moderate Moderate Strong Moderate
DLL4
(HGNC:2910)
 Moderate Moderate Weak Moderate Strong Moderate
DLL3
(HGNC:2909)
 Strong Strong Moderate Strong Strong Strong
DDHD2
(HGNC:29106)
 Strong Moderate Moderate Strong Strong Strong
TELO2
(HGNC:29099)
 Moderate Strong Moderate Moderate Strong Moderate
OBSL1
(HGNC:29092)
 Strong Moderate Moderate Strong Strong Strong
SMCHD1
(HGNC:29090)
 Moderate Moderate Weak Strong Moderate Moderate
IQSEC2
(HGNC:29059)
 Moderate Moderate Strong Strong Strong —
IFT140
(HGNC:29077)
 Weak Weak Moderate Weak Weak Strong
DLL1
(HGNC:2908)
 Moderate Moderate Weak Weak Moderate Moderate
DLK1
(HGNC:2907)
 Strong Moderate Moderate Strong Strong Strong
SPECC1L
(HGNC:29022)
 Moderate Strong Moderate Weak Strong Moderate
DSTYK
(HGNC:29043)
 Moderate Moderate Moderate Moderate Moderate Moderate
SZT2
(HGNC:29040)
 Moderate Strong Moderate Strong Strong Moderate
DLD
(HGNC:2898)
 Moderate Weak Moderate Strong Strong Strong
DLAT
(HGNC:2896)
 Moderate Moderate Weak Weak Moderate Moderate
WASHC5
(HGNC:28984)
 Moderate Moderate Moderate Strong Moderate Moderate
Showing 1241–1260 of 2035