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 |
|
IRF2BP2
(HGNC:21729)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
BRAT1
(HGNC:21701)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RNF216
(HGNC:21698)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ZNF462
(HGNC:21684)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
OSTM1
(HGNC:21652)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SATB2
(HGNC:21637)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CHCHD2
(HGNC:21645)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
NHLRC1
(HGNC:21576)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RFX6
(HGNC:21478)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
MCM9
(HGNC:21484)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CNGB1
(HGNC:2151)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CNGA1
(HGNC:2148)
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
INPP5E
(HGNC:21474)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
RARS2
(HGNC:21406)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ABHD5
(HGNC:21396)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SBF2
(HGNC:2135)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DYM
(HGNC:21317)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ADPRS
(HGNC:21304)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DSG4
(HGNC:21307)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PNPLA1
(HGNC:21246)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|