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 |
|
PRKD1
(HGNC:9407)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
PRKCG
(HGNC:9402)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PRKCD
(HGNC:9399)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PRDM5
(HGNC:9349)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
PRKCA
(HGNC:9393)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
PRDM1
(HGNC:9346)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
PQBP1
(HGNC:9330)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PRB2
(HGNC:9338)
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
PPP3CA
(HGNC:9314)
|
Strong
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PPP2R5D
(HGNC:9312)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
B4GALT7
(HGNC:930)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PPP1CB
(HGNC:9282)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PDP1
(HGNC:9279)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
CTSA
(HGNC:9251)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
B3GAT3
(HGNC:923)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PPIB
(HGNC:9255)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
POU4F3
(HGNC:9220)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
POLH
(HGNC:9181)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
POLR2A
(HGNC:9187)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
POLG2
(HGNC:9180)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
|