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
|
|