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
REV3L
(HGNC:9968)
 Weak Weak Moderate Weak Weak Moderate
REST
(HGNC:9966)
 Strong Moderate Moderate Strong Strong Strong
RERE
(HGNC:9965)
 Moderate Moderate Moderate Moderate Strong Moderate
DPF2
(HGNC:9964)
 Moderate Moderate Moderate Weak Strong Moderate
BCL2L11
(HGNC:994)
 Weak Weak Weak Weak Weak Moderate
RECQL
(HGNC:9948)
 Weak Weak Weak Moderate Moderate Weak
RBMX
(HGNC:9910)
 Weak Moderate Moderate Moderate Moderate Moderate
RARS1
(HGNC:9870)
 Strong Strong Moderate Moderate Strong Strong
RAI1
(HGNC:9834)
 Strong Moderate Moderate Strong Strong Strong
RAD54L
(HGNC:9826)
 Weak Weak Weak Strong Weak Weak
RAC2
(HGNC:9802)
 Moderate Moderate Moderate Moderate Moderate Strong
RAB32
(HGNC:9772)
 Strong Strong Moderate Moderate Strong Moderate
PYGL
(HGNC:9725)
 Weak Moderate Weak Moderate Moderate Moderate
ALDH18A1
(HGNC:9722)
 Strong Moderate Moderate Strong Moderate Strong
PTPRT
(HGNC:9682)
 Weak Weak Weak Weak Moderate Weak
PTPRF
(HGNC:9670)
 Moderate Moderate Weak Moderate Weak Moderate
PTPRB
(HGNC:9665)
 Weak Weak Moderate Moderate Weak Weak
PTPN13
(HGNC:9646)
 Weak Weak Weak Weak Moderate Moderate
EIF2AK2
(HGNC:9437)
 Moderate Strong Moderate Weak Strong Moderate
PRKCSH
(HGNC:9411)
 Moderate Strong Moderate Moderate Strong Moderate
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