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
IRF2BP2
(HGNC:21729)
 Moderate Strong Moderate Moderate Strong Strong
BRAT1
(HGNC:21701)
 Strong Moderate Moderate Strong Strong Strong
RNF216
(HGNC:21698)
 Strong Strong Moderate Strong Moderate Strong
ZNF462
(HGNC:21684)
 Strong Strong Moderate Strong Strong Strong
OSTM1
(HGNC:21652)
 Strong Strong Moderate Moderate Strong Strong
SATB2
(HGNC:21637)
 Moderate Moderate Strong Strong Strong Strong
CHCHD2
(HGNC:21645)
 Strong Moderate Moderate Strong Weak Moderate
NHLRC1
(HGNC:21576)
 Strong Strong Moderate Strong Strong Strong
RFX6
(HGNC:21478)
 Strong Moderate Moderate Strong Moderate Strong
MCM9
(HGNC:21484)
 Strong Moderate Moderate Moderate Strong Strong
CNGB1
(HGNC:2151)
 Strong Strong Moderate Moderate Strong Strong
CNGA1
(HGNC:2148)
 Strong Strong Strong Strong Strong Strong
INPP5E
(HGNC:21474)
 Moderate Strong Moderate Weak Strong Moderate
RARS2
(HGNC:21406)
 Strong Strong Moderate Moderate Strong Strong
ABHD5
(HGNC:21396)
 Strong Strong Moderate Strong Strong Strong
SBF2
(HGNC:2135)
 Strong Strong Moderate Moderate Strong Strong
DYM
(HGNC:21317)
 Strong Strong Moderate Strong Strong Strong
ADPRS
(HGNC:21304)
 Strong Strong Moderate Moderate Strong Strong
DSG4
(HGNC:21307)
 Strong Strong Moderate Strong Strong Strong
PNPLA1
(HGNC:21246)
 Moderate Strong Moderate Strong Strong Strong
Showing 1481–1500 of 2035