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 |
|
USH1G
(HGNC:16356)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
RSPO4
(HGNC:16175)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
UPB1
(HGNC:16297)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
|
|
NFU1
(HGNC:16287)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PNPLA6
(HGNC:16268)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MAML3
(HGNC:16272)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
YAP1
(HGNC:16262)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
MAML2
(HGNC:16259)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
TUBB1
(HGNC:16257)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
MLLT10
(HGNC:16063)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
MCM8
(HGNC:16147)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DNAJC5
(HGNC:16235)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
SLC52A3
(HGNC:16187)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
CADPS2
(HGNC:16018)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
MPLKIP
(HGNC:16002)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
STRC
(HGNC:16035)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
APTX
(HGNC:15984)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RP1L1
(HGNC:15946)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
SELENON
(HGNC:15999)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
TOE1
(HGNC:15954)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|