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 |
|
OSGEP
(HGNC:18028)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
MOCOS
(HGNC:18234)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
HAVCR2
(HGNC:18437)
|
Strong
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
|
|
WIF1
(HGNC:18081)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Weak
|
|
|
MYO18B
(HGNC:18150)
|
Strong
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
EMSY
(HGNC:18071)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
TMC6
(HGNC:18021)
|
Strong
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
NAGS
(HGNC:17996)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TRPM7
(HGNC:17994)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
B3GALT6
(HGNC:17978)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
IRAK4
(HGNC:17967)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
EXOSC3
(HGNC:17944)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NT5C3A
(HGNC:17820)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PGAP2
(HGNC:17893)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NMNAT1
(HGNC:17877)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
INVS
(HGNC:17870)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
NGLY1
(HGNC:17646)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ACY1
(HGNC:177)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
TDP2
(HGNC:17768)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CDH3
(HGNC:1762)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|