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 |
|
DHX37
(HGNC:17210)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
MTCH1
(HGNC:17586)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CDH2
(HGNC:1759)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
KAT6B
(HGNC:17582)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
UBR1
(HGNC:16808)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CDC27
(HGNC:1728)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
RAB3GAP2
(HGNC:17168)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
ACTN2
(HGNC:164)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
CD79A
(HGNC:1698)
|
Strong
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
SPEN
(HGNC:17575)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
CDH11
(HGNC:1750)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
GJC2
(HGNC:17494)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ZFPM2
(HGNC:16700)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
TPK1
(HGNC:17358)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CDC42
(HGNC:1736)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CDK13
(HGNC:1733)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
PRPF8
(HGNC:17340)
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
WAC
(HGNC:17327)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SP7
(HGNC:17321)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
RRM2B
(HGNC:17296)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|