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 |
|
IRAK4
(HGNC:17967)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
EXOSC3
(HGNC:17944)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
NT5C3A
(HGNC:17820)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PGAP2
(HGNC:17893)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NMNAT1
(HGNC:17877)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
INVS
(HGNC:17870)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Strong
|
|
|
NGLY1
(HGNC:17646)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ACY1
(HGNC:177)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
TDP2
(HGNC:17768)
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
CDH3
(HGNC:1762)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DHX37
(HGNC:17210)
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
MTCH1
(HGNC:17586)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CDH2
(HGNC:1759)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
KAT6B
(HGNC:17582)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
UBR1
(HGNC:16808)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CDC27
(HGNC:1728)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
RAB3GAP2
(HGNC:17168)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ACTN2
(HGNC:164)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
CD79A
(HGNC:1698)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
SPEN
(HGNC:17575)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|