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 |
|
PRKCQ
(HGNC:9410)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
PRDX3
(HGNC:9354)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
POU3F4
(HGNC:9217)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
POLK
(HGNC:9183)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
PNKD
(HGNC:9153)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
PLOD3
(HGNC:9083)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PLD1
(HGNC:9067)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
PLCD1
(HGNC:9060)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
PLAT
(HGNC:9051)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
PITX1
(HGNC:9004)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
PI4KA
(HGNC:8983)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PHKB
(HGNC:8927)
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
PEX6
(HGNC:8859)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PEX3
(HGNC:8858)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PEX13
(HGNC:8855)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
PEX10
(HGNC:8851)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NUP85
(HGNC:8734)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
PCK1
(HGNC:8724)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PCDH12
(HGNC:8657)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PAX7
(HGNC:8621)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|