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 |
|
KCNJ8
(HGNC:6269)
|
Moderate
|
Weak
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
KCNH1
(HGNC:6250)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
—
|
|
|
APRT
(HGNC:626)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
KCND3
(HGNC:6239)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
KCNJ13
(HGNC:6259)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
|
|
KCNC3
(HGNC:6235)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
KCNC2
(HGNC:6234)
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
Moderate
|
|
|
KCNC1
(HGNC:6233)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
Weak
|
|
|
KCNB1
(HGNC:6231)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
KCNA2
(HGNC:6220)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
Moderate
|
|
|
KCNA1
(HGNC:6218)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
KARS1
(HGNC:6215)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
IVD
(HGNC:6186)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
JARID2
(HGNC:6196)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
ITK
(HGNC:6171)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ITM2B
(HGNC:6174)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ITGA6
(HGNC:6142)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
|
|
ITGA3
(HGNC:6139)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
IL1RAPL1
(HGNC:5996)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ISL1
(HGNC:6132)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|