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 |
|
TMEM53
(HGNC:26186)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PYROXD1
(HGNC:26162)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC25A38
(HGNC:26054)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
PIGV
(HGNC:26031)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CASZ1
(HGNC:26002)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PIGG
(HGNC:25985)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
KLHL24
(HGNC:25947)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
CWF19L1
(HGNC:25613)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SHQ1
(HGNC:25543)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
Moderate
|
|
|
CCDC88A
(HGNC:25523)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TANGO2
(HGNC:25439)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CCDC8
(HGNC:25367)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CCDC39
(HGNC:25244)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ALKBH8
(HGNC:25189)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CTNNA2
(HGNC:2510)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Strong
|
|
|
METTL5
(HGNC:25006)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
CTBP1
(HGNC:2494)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
QRICH1
(HGNC:24713)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CSNK2B
(HGNC:2460)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
KMT5B
(HGNC:24283)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|