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
ALG8
(HGNC:23161)
 Moderate Moderate Weak Moderate Moderate Moderate
CPOX
(HGNC:2321)
 Moderate Moderate Moderate Moderate Moderate Strong
PIGW
(HGNC:23213)
 Moderate Strong Moderate Moderate Strong Strong
FERMT3
(HGNC:23151)
 Strong Strong Moderate Strong Strong Strong
SLC13A5
(HGNC:23089)
 Strong Strong Moderate Strong Strong Strong
FAT3
(HGNC:23112)
 Weak Weak Moderate Moderate Weak Weak
ALG6
(HGNC:23157)
 Moderate Strong Moderate Strong Moderate Strong
FAT4
(HGNC:23109)
 Strong Strong Moderate Weak Strong Strong
LMBRD1
(HGNC:23038)
 Strong Moderate Weak Moderate Moderate Strong
GNPTG
(HGNC:23026)
 Strong Strong Moderate Strong Strong Strong
ALG3
(HGNC:23056)
 Strong Strong Moderate Strong Strong Strong
TRAPPC2
(HGNC:23068)
 Strong Strong Moderate Strong Strong Strong
FAM20A
(HGNC:23015)
 Strong Strong Moderate Strong Strong Strong
ZRSR2
(HGNC:23019)
 Moderate Weak Weak Weak Weak Moderate
MED13L
(HGNC:22962)
 Weak Weak Strong Weak Strong Moderate
COX8A
(HGNC:2294)
 Weak Moderate Weak Weak Moderate Moderate
COL27A1
(HGNC:22986)
 Strong Strong Moderate Strong Strong Strong
PDLIM7
(HGNC:22958)
 Weak Weak Weak Weak Weak Moderate
NLRP12
(HGNC:22938)
 Moderate Moderate Weak Strong Moderate Moderate
NLRP2
(HGNC:22948)
 Moderate Moderate Weak Moderate Moderate Moderate
Showing 1441–1460 of 2035