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
SDC2
(HGNC:10659)
 Weak Weak Weak Weak Weak Weak
AIMP1
(HGNC:10648)
 Strong Strong Moderate Strong Strong Strong
ATXN10
(HGNC:10549)
 Strong Moderate Moderate Strong Strong Strong
OPN1SW
(HGNC:1012)
 Weak Weak Moderate Moderate Moderate Weak
SC5D
(HGNC:10547)
 Moderate Strong Weak Weak Strong Strong
ROR2
(HGNC:10257)
 Strong Strong Moderate Strong Strong Strong
RYR3
(HGNC:10485)
 Weak Weak Weak Weak Weak Weak
RREB1
(HGNC:10449)
 Strong Moderate Moderate Weak Strong Strong
RNF7
(HGNC:10070)
 Weak Weak Weak Weak Weak Weak
RPL5
(HGNC:10360)
 Moderate Weak Strong Weak Strong Strong
RPL3L
(HGNC:10351)
 Moderate Moderate Moderate Moderate Moderate Moderate
BCS1L
(HGNC:1020)
 Strong Moderate Moderate Strong Strong Strong
RHAG
(HGNC:10006)
 Strong Strong Moderate Strong Moderate Strong
RLBP1
(HGNC:10024)
 Strong Strong Moderate Strong Strong Strong
RIPK1
(HGNC:10019)
 Moderate Moderate Moderate Moderate Moderate Moderate
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