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 |
|
TRIT1
(HGNC:20286)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CLCN4
(HGNC:2022)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
DNAAF2
(HGNC:20188)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GLRX5
(HGNC:20134)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
ADSS1
(HGNC:20093)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
AK7
(HGNC:20091)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CYCS
(HGNC:19986)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CCDC88C
(HGNC:19967)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
TECPR2
(HGNC:19957)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NOL6
(HGNC:19910)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
VSX2
(HGNC:1975)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
WEE2
(HGNC:19684)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CHRNB1
(HGNC:1961)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Strong
|
|
|
ADAM17
(HGNC:195)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
KANK1
(HGNC:19309)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
CSMD3
(HGNC:19291)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
MTO1
(HGNC:19261)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TBC1D4
(HGNC:19165)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
THOC2
(HGNC:19073)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
KCNT2
(HGNC:18866)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|