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
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