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
ALG13
(HGNC:30881)
 Strong Moderate Moderate Moderate Strong Moderate
LINS1
(HGNC:30922)
 Strong Moderate Moderate Strong Strong Strong
HUWE1
(HGNC:30892)
 Moderate Moderate Moderate Weak Strong Moderate
POC1B
(HGNC:30836)
 Strong Moderate Moderate Strong Strong Strong
YY1AP1
(HGNC:30935)
 Strong Strong Moderate Moderate Strong Strong
EFTUD2
(HGNC:30858)
 Strong Strong Moderate Strong Strong Strong
PNPLA2
(HGNC:30802)
 Weak Weak Moderate Strong Strong Strong
TUBB2B
(HGNC:30829)
 Moderate Strong Moderate Moderate Moderate Strong
TRAPPC9
(HGNC:30832)
 Strong Strong Moderate Strong Strong Strong
TARS2
(HGNC:30740)
 Moderate Moderate Moderate Moderate Strong Strong
STRA6
(HGNC:30650)
 Strong Strong Moderate Strong Strong Strong
UBA2
(HGNC:30661)
 Strong Moderate Moderate Moderate Strong Strong
CEP57
(HGNC:30794)
 Strong Strong Moderate Strong Strong Strong
UNC45A
(HGNC:30594)
 Moderate Strong Moderate Moderate Strong Strong
UBIAD1
(HGNC:30791)
 Strong Strong Moderate Moderate Strong Strong
GATAD2B
(HGNC:30778)
 Strong Strong Moderate Weak Strong Strong
PARS2
(HGNC:30563)
 Strong Strong Moderate Weak Strong Strong
TSHZ3
(HGNC:30700)
 Moderate Moderate Weak Weak Moderate Moderate
PPP1R21
(HGNC:30595)
 Strong Strong Weak Weak Strong Strong
DSPP
(HGNC:3054)
 Strong Strong Strong Strong Strong Strong
Showing 1161–1180 of 2035