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
|
|