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 |
|
IL36RN
(HGNC:15561)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
XYLT2
(HGNC:15517)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
CBFB
(HGNC:1539)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
LPAR6
(HGNC:15520)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
PUS1
(HGNC:15508)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SERPINH1
(HGNC:1546)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ANKH
(HGNC:15492)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
XYLT1
(HGNC:15516)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
RUNX1T1
(HGNC:1535)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
GPHN
(HGNC:15465)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
MICU1
(HGNC:1530)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GPR101
(HGNC:14963)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
CASP10
(HGNC:1500)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
POFUT1
(HGNC:14988)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
CASK
(HGNC:1497)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
SNX14
(HGNC:14977)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GTPBP3
(HGNC:14880)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NIN
(HGNC:14906)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
SNX10
(HGNC:14974)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
PIGT
(HGNC:14938)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|