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
SEPSECS
(HGNC:30605)
 Moderate Strong Moderate Moderate Strong Strong
SLC46A1
(HGNC:30521)
 Strong Strong Moderate Strong Strong Strong
EXPH5
(HGNC:30578)
 Strong Strong Moderate Moderate Strong Strong
DNAJC19
(HGNC:30528)
 Strong Strong Moderate Strong Strong Strong
KIF7
(HGNC:30497)
 Moderate Moderate Moderate Strong Moderate Moderate
DSG1
(HGNC:3048)
 Strong Strong Moderate Strong Strong Strong
AEBP1
(HGNC:303)
 Strong Strong Moderate Moderate Strong Strong
KLHL40
(HGNC:30372)
 Strong Strong Moderate Strong Strong Strong
POLR3B
(HGNC:30348)
 Strong Moderate Moderate Strong Moderate Strong
ATN1
(HGNC:3033)
 Strong Strong Moderate Strong Moderate Strong
PNPO
(HGNC:30260)
 Moderate Strong Moderate Strong Strong Strong
PREPL
(HGNC:30228)
 Strong Strong Moderate Moderate Strong Strong
SLC52A2
(HGNC:30224)
 Strong Strong Moderate Strong Strong Strong
TUSC3
(HGNC:30242)
 Strong Strong Moderate Strong Strong Strong
SLC26A3
(HGNC:3018)
 Strong Strong Moderate Strong Strong Strong
RFT1
(HGNC:30220)
 Moderate Strong Moderate Weak Strong Moderate
DPYS
(HGNC:3013)
 Moderate Moderate Moderate Strong Strong Strong
HSPB8
(HGNC:30171)
 Strong Moderate Moderate Strong Strong Strong
PACS1
(HGNC:30032)
 Strong Strong Moderate Strong Strong Strong
NUP107
(HGNC:29914)
 Strong Moderate Moderate Strong Moderate Strong
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