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
TMEM53
(HGNC:26186)
 Strong Strong Moderate Strong Strong Strong
PYROXD1
(HGNC:26162)
 Strong Strong Moderate Strong Strong Strong
SLC25A38
(HGNC:26054)
 Moderate Moderate Moderate Weak Strong Moderate
PIGV
(HGNC:26031)
 Strong Strong Moderate Weak Strong Strong
CASZ1
(HGNC:26002)
 Strong Strong Moderate Weak Strong Strong
PIGG
(HGNC:25985)
 Strong Moderate Moderate Moderate Strong Strong
KLHL24
(HGNC:25947)
 Moderate Moderate Moderate Moderate Moderate Moderate
CWF19L1
(HGNC:25613)
 Strong Strong Moderate Strong Strong Strong
SHQ1
(HGNC:25543)
 Moderate Strong Weak Moderate Strong Moderate
CCDC88A
(HGNC:25523)
 Strong Strong Moderate Strong Strong Strong
TANGO2
(HGNC:25439)
 Strong Strong Moderate Strong Strong Strong
CCDC8
(HGNC:25367)
 Strong Strong Moderate Strong Strong Strong
CCDC39
(HGNC:25244)
 Strong Strong Moderate Strong Strong Strong
ALKBH8
(HGNC:25189)
 Strong Strong Moderate Moderate Strong Strong
CTNNA2
(HGNC:2510)
 Moderate Moderate Weak Weak Moderate Strong
METTL5
(HGNC:25006)
 Moderate Moderate Moderate Strong Moderate Moderate
CTBP1
(HGNC:2494)
 Strong Strong Moderate Strong Strong Strong
QRICH1
(HGNC:24713)
 Strong Moderate Moderate Weak Strong Strong
CSNK2B
(HGNC:2460)
 Strong Strong Moderate Moderate Strong Strong
KMT5B
(HGNC:24283)
 Strong Strong Moderate Moderate Strong Strong
Showing 281–300 of 2035