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 |
|
ALG13
(HGNC:30881)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
LINS1
(HGNC:30922)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HUWE1
(HGNC:30892)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
POC1B
(HGNC:30836)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
YY1AP1
(HGNC:30935)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
EFTUD2
(HGNC:30858)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PNPLA2
(HGNC:30802)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TUBB2B
(HGNC:30829)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
TRAPPC9
(HGNC:30832)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TARS2
(HGNC:30740)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
STRA6
(HGNC:30650)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
UBA2
(HGNC:30661)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
CEP57
(HGNC:30794)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
UNC45A
(HGNC:30594)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
UBIAD1
(HGNC:30791)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
GATAD2B
(HGNC:30778)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PARS2
(HGNC:30563)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
TSHZ3
(HGNC:30700)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
PPP1R21
(HGNC:30595)
|
Strong
|
Strong
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
DSPP
(HGNC:3054)
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|