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 |
|
PTCH2
(HGNC:9586)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
|
|
PSTPIP1
(HGNC:9580)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
PSMB8
(HGNC:9545)
|
Moderate
|
Strong
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
PRPS1
(HGNC:9462)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ACAT2
(HGNC:94)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PLPBP
(HGNC:9457)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DNAJC3
(HGNC:9439)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
PRKRA
(HGNC:9438)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
PRKG1
(HGNC:9414)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
PRKD1
(HGNC:9407)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
PRKCG
(HGNC:9402)
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PRKCD
(HGNC:9399)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PRDM5
(HGNC:9349)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
PRKCA
(HGNC:9393)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
|
|
PRDM1
(HGNC:9346)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
PQBP1
(HGNC:9330)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PRB2
(HGNC:9338)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
PPP3CA
(HGNC:9314)
|
Strong
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
PPP2R5D
(HGNC:9312)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
B4GALT7
(HGNC:930)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|