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
MFSD8
(HGNC:28486)
 Moderate Moderate Strong Strong Strong Strong
TRMT10A
(HGNC:28403)
 Strong Strong Moderate Moderate Strong Strong
TMEM43
(HGNC:28472)
 Weak Moderate Moderate Weak Strong Moderate
TBCK
(HGNC:28261)
 Strong Strong Moderate Strong Strong Strong
THOC6
(HGNC:28369)
 Strong Strong Moderate Strong Strong Strong
DGAT1
(HGNC:2843)
 Strong Strong Moderate Strong Strong Strong
CCNQ
(HGNC:28434)
 Moderate Strong Weak Weak Strong Strong
D2HGDH
(HGNC:28358)
 Moderate Moderate Weak Weak Strong Strong
NIPAL4
(HGNC:28018)
 Moderate Strong Moderate Moderate Strong Strong
GSDME
(HGNC:2810)
 Strong Strong Moderate Moderate Strong Strong
STING1
(HGNC:27962)
 Strong Moderate Moderate Strong Moderate Strong
GRHL2
(HGNC:2799)
 Moderate Moderate Moderate Moderate Moderate Moderate
DDX11
(HGNC:2736)
 Strong Strong Moderate Moderate Strong Strong
SLC6A19
(HGNC:27960)
 Moderate Moderate Moderate Strong Moderate Moderate
DEK
(HGNC:2768)
 Weak Weak Weak Weak Weak Weak
TSEN54
(HGNC:27561)
 Strong Strong Moderate Strong Moderate Moderate
IBA57
(HGNC:27302)
 Moderate Strong Moderate Strong Strong Strong
FOXRED1
(HGNC:26927)
 Strong Moderate Moderate Moderate Strong Strong
DDIT3
(HGNC:2726)
 Weak Weak Weak Weak Weak Weak
CFAP418
(HGNC:27232)
 Strong Strong Moderate Strong Strong Strong
Showing 1281–1300 of 2035