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 |
|
SEPSECS
(HGNC:30605)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SLC46A1
(HGNC:30521)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
EXPH5
(HGNC:30578)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DNAJC19
(HGNC:30528)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KIF7
(HGNC:30497)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
DSG1
(HGNC:3048)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
AEBP1
(HGNC:303)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
KLHL40
(HGNC:30372)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
POLR3B
(HGNC:30348)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
ATN1
(HGNC:3033)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
PNPO
(HGNC:30260)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PREPL
(HGNC:30228)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
SLC52A2
(HGNC:30224)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
TUSC3
(HGNC:30242)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SLC26A3
(HGNC:3018)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RFT1
(HGNC:30220)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
DPYS
(HGNC:3013)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HSPB8
(HGNC:30171)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PACS1
(HGNC:30032)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
NUP107
(HGNC:29914)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|