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
PANX1
(HGNC:8599)
 Moderate Weak Moderate Weak Weak Moderate
ATP6V0C
(HGNC:855)
 Moderate Moderate Weak Weak Moderate Moderate
BLOC1S6
(HGNC:8549)
 Strong Strong Moderate Moderate Strong Strong
P4HB
(HGNC:8548)
 Moderate Strong Moderate Strong Strong Moderate
ATP6V1A
(HGNC:851)
 Moderate Strong Weak Moderate Moderate Strong
OTOG
(HGNC:8516)
 Strong Strong Moderate Strong Strong Strong
OSMR
(HGNC:8507)
 Moderate Moderate Moderate Moderate Moderate Strong
ACACA
(HGNC:84)
 Moderate Strong Moderate Weak Strong Strong
ATP5F1A
(HGNC:823)
 Strong Moderate Moderate Moderate Moderate Strong
ATP2B4
(HGNC:817)
 Moderate Weak Moderate Moderate Moderate Moderate
OGT
(HGNC:8127)
 Strong Strong Weak Weak Strong Strong
ODC1
(HGNC:8109)
 Strong Strong Weak Weak Strong Strong
OAS1
(HGNC:8086)
 Moderate Strong Moderate Weak Strong Strong
NXF5
(HGNC:8075)
 Moderate Moderate Moderate Weak Moderate Moderate
NRP1
(HGNC:8004)
 Moderate Moderate Weak Weak Moderate Moderate
NPPA
(HGNC:7939)
 Strong Strong Moderate Weak Strong Moderate
PNP
(HGNC:7892)
 Strong Strong Moderate Strong Strong Strong
CNOT3
(HGNC:7879)
 Moderate Strong Moderate Moderate Strong Strong
NODAL
(HGNC:7865)
 Moderate Strong Weak Weak Moderate Moderate
NID1
(HGNC:7821)
 Moderate Moderate Moderate Weak Strong Moderate
Showing 41–60 of 2035