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 |
|
STRA6
(HGNC:30650)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
UBA2
(HGNC:30661)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
CEP57
(HGNC:30794)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
UNC45A
(HGNC:30594)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
UBIAD1
(HGNC:30791)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
GATAD2B
(HGNC:30778)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
PARS2
(HGNC:30563)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
TSHZ3
(HGNC:30700)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
PPP1R21
(HGNC:30595)
|
Strong
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
DSPP
(HGNC:3054)
|
Weak
|
Weak
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
SEPSECS
(HGNC:30605)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
SLC46A1
(HGNC:30521)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
EXPH5
(HGNC:30578)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DNAJC19
(HGNC:30528)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KIF7
(HGNC:30497)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DSG1
(HGNC:3048)
|
Weak
|
Weak
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
AEBP1
(HGNC:303)
|
Weak
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
KLHL40
(HGNC:30372)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
POLR3B
(HGNC:30348)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Weak
|
Moderate
|
|
|
ATN1
(HGNC:3033)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|