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 |
|
STING1
(HGNC:27962)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
GRHL2
(HGNC:2799)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
DDX11
(HGNC:2736)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SLC6A19
(HGNC:27960)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
DEK
(HGNC:2768)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
TSEN54
(HGNC:27561)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
IBA57
(HGNC:27302)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
FOXRED1
(HGNC:26927)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
DDIT3
(HGNC:2726)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
CFAP418
(HGNC:27232)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CARMIL2
(HGNC:27089)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ESCO2
(HGNC:27230)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DDB2
(HGNC:2718)
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
DCN
(HGNC:2705)
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DNAJC21
(HGNC:27030)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
COX20
(HGNC:26970)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
BLTP1
(HGNC:26953)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
JAGN1
(HGNC:26926)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
MTRFR
(HGNC:26784)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ERCC6L2
(HGNC:26922)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|