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 |
|
PURA
(HGNC:9701)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CAVIN1
(HGNC:9688)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PTPRQ
(HGNC:9679)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Moderate
|
Strong
|
|
|
PTPRC
(HGNC:9666)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
PTPN1
(HGNC:9642)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
PTK2
(HGNC:9611)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
PTHLH
(HGNC:9607)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PTH1R
(HGNC:9608)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PTH
(HGNC:9606)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
PTGDS
(HGNC:9592)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
PTDSS1
(HGNC:9587)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
PTCH2
(HGNC:9586)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
PSTPIP1
(HGNC:9580)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
|
|
PSMB8
(HGNC:9545)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PRPS1
(HGNC:9462)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ACAT2
(HGNC:94)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PLPBP
(HGNC:9457)
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DNAJC3
(HGNC:9439)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
PRKRA
(HGNC:9438)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Weak
|
|
|
PRKG1
(HGNC:9414)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Weak
|
|