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
UBR4
(HGNC:30313)
 Moderate Weak Moderate Weak Moderate Moderate
WLS
(HGNC:30238)
 Moderate Strong Weak Moderate Moderate Moderate
CC2D1A
(HGNC:30237)
 Moderate Strong Moderate Strong Moderate Moderate
TANC2
(HGNC:30212)
 Moderate Strong Moderate Moderate Strong Moderate
STRADA
(HGNC:30172)
 Strong Strong Moderate Moderate Strong Strong
DPYSL2
(HGNC:3014)
 Weak Moderate Weak Weak Weak Weak
DPM1
(HGNC:3005)
 Moderate Moderate Weak Weak Strong Strong
DPH1
(HGNC:3003)
 Strong Strong Moderate Moderate Strong Strong
TENM3
(HGNC:29944)
 Moderate Moderate Moderate Moderate Moderate Moderate
COASY
(HGNC:29932)
 Moderate Moderate Moderate Weak Strong Strong
NDUFAF3
(HGNC:29918)
 Moderate Moderate Weak Moderate Strong Strong
CSDE1
(HGNC:29905)
 Moderate Moderate Weak Weak Strong Moderate
DOCK2
(HGNC:2988)
 Moderate Moderate Moderate Moderate Strong Strong
IFT43
(HGNC:29669)
 Moderate Moderate Moderate Strong Moderate Moderate
MNS1
(HGNC:29636)
 Strong Strong Moderate Moderate Strong Strong
DNASE1
(HGNC:2956)
 Weak Weak Moderate Moderate Weak Weak
ARV1
(HGNC:29561)
 Moderate Strong Weak Weak Strong Moderate
NEXN
(HGNC:29557)
 Moderate Moderate Moderate Moderate Moderate Moderate
DNAH8
(HGNC:2952)
 Moderate Strong Moderate Weak Strong Strong
GLDN
(HGNC:29514)
 Moderate Moderate Moderate Moderate Moderate Moderate
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