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
PCNT
(HGNC:16068)
 Strong Strong Moderate Strong Strong Strong
RNF31
(HGNC:16031)
 Strong Strong Moderate Weak Strong Strong
TRIM63
(HGNC:16007)
 Moderate Moderate Moderate Weak Strong Moderate
NAV3
(HGNC:15998)
 Strong Strong Moderate Weak Strong Strong
NAV2
(HGNC:15997)
 Weak Weak Moderate Weak Weak Moderate
CCNF
(HGNC:1591)
 Moderate Moderate Weak Moderate Moderate Moderate
PLCB1
(HGNC:15917)
 Moderate Moderate Moderate Moderate Moderate Moderate
NDUFAF5
(HGNC:15899)
 Moderate Strong Moderate Moderate Strong Strong
FERMT1
(HGNC:15889)
 Strong Strong Moderate Strong Strong Strong
KIZ
(HGNC:15865)
 Strong Strong Moderate Weak Strong Strong
ANKRD1
(HGNC:15819)
 Weak Weak Weak Moderate Moderate Weak
ZNF335
(HGNC:15807)
 Moderate Strong Moderate Strong Strong Strong
GATA5
(HGNC:15802)
 Moderate Moderate Moderate Strong Moderate Moderate
OSBPL2
(HGNC:15761)
 Strong Moderate Strong Moderate Moderate Moderate
NAPB
(HGNC:15751)
 Strong Strong Moderate Strong Strong Strong
HID1
(HGNC:15736)
 Weak Weak Weak Weak Weak Weak
LRPPRC
(HGNC:15714)
 Moderate Strong Moderate Strong Strong Strong
HPS3
(HGNC:15597)
 Strong Strong Moderate Moderate Strong Strong
SPRY4
(HGNC:15533)
 Weak Strong Weak Weak Moderate Weak
ALDH1A2
(HGNC:15472)
 Moderate Moderate Weak Moderate Moderate Moderate
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