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 |
|
SDCCAG8
(HGNC:10671)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
CNNM4
(HGNC:105)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SCO2
(HGNC:10604)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
SCN11A
(HGNC:10583)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SCNN1A
(HGNC:10599)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
RPS7
(HGNC:10440)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
RPS6KA3
(HGNC:10432)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
SBF1
(HGNC:10542)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
SCN3A
(HGNC:10590)
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
ROBO1
(HGNC:10249)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
SDC2
(HGNC:10659)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
AIMP1
(HGNC:10648)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ATXN10
(HGNC:10549)
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
OPN1SW
(HGNC:1012)
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
SC5D
(HGNC:10547)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
ROR2
(HGNC:10257)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Weak
|
Strong
|
|
|
RYR3
(HGNC:10485)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Weak
|
|
|
RREB1
(HGNC:10449)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
RNF7
(HGNC:10070)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RPL5
(HGNC:10360)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|