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
|
|