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 |
|
DNAJC6
(HGNC:15469)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
P2RX2
(HGNC:15459)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Moderate
|
|
|
MBTPS1
(HGNC:15456)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
MBTPS2
(HGNC:15455)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CASQ2
(HGNC:1513)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
PXDN
(HGNC:14966)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
PUM1
(HGNC:14957)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
TSGA10
(HGNC:14927)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SPTBN4
(HGNC:14896)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DNAJB11
(HGNC:14889)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
COL5A3
(HGNC:14864)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
FYCO1
(HGNC:14673)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ARHGEF9
(HGNC:14561)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
GAB2
(HGNC:14458)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
ELOVL1
(HGNC:14418)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
MMP21
(HGNC:14357)
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Strong
|
Strong
|
|
|
MRTFA
(HGNC:14334)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
IFT81
(HGNC:14313)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
BLNK
(HGNC:14211)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
JPH2
(HGNC:14202)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|