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 |
|
NARS2
(HGNC:26274)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
LOXHD1
(HGNC:26521)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CTC1
(HGNC:26169)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
SCLT1
(HGNC:26406)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PIEZO2
(HGNC:26270)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TMEM70
(HGNC:26050)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MARVELD2
(HGNC:26401)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PDZD7
(HGNC:26257)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
CCDC40
(HGNC:26090)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NSUN2
(HGNC:25994)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TTC19
(HGNC:26006)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RETREG1
(HGNC:25964)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SRD5A3
(HGNC:25812)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ABRAXAS1
(HGNC:25829)
|
Weak
|
Weak
|
Weak
|
Strong
|
Moderate
|
Weak
|
|
|
CLIP2
(HGNC:2586)
|
Strong
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
ORAI1
(HGNC:25896)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
WDR73
(HGNC:25928)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ADK
(HGNC:257)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
DCAF17
(HGNC:25784)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
USB1
(HGNC:25792)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|