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 |
|
TNPO3
(HGNC:17103)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SYNE2
(HGNC:17084)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
CD8A
(HGNC:1706)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
RAB3GAP1
(HGNC:17063)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NIPA2
(HGNC:17044)
|
Strong
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
HPS5
(HGNC:17022)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CD81
(HGNC:1701)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
ZMYND11
(HGNC:16966)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
ATG7
(HGNC:16935)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
UBR5
(HGNC:16806)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
SEMA6D
(HGNC:16770)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
PRDX6
(HGNC:16753)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
DNAAF11
(HGNC:16725)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SCARB2
(HGNC:1665)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SRRM2
(HGNC:16639)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
DNAJC30
(HGNC:16410)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ACTN1
(HGNC:163)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
TRIM32
(HGNC:16380)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ACTL7A
(HGNC:161)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
DUSP22
(HGNC:16077)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|