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 |
|
KCNA1
(HGNC:6218)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
KARS1
(HGNC:6215)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
IVD
(HGNC:6186)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
JARID2
(HGNC:6196)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
ITK
(HGNC:6171)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ITM2B
(HGNC:6174)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ITGA6
(HGNC:6142)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
|
|
ITGA3
(HGNC:6139)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
IL1RAPL1
(HGNC:5996)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ISL1
(HGNC:6132)
|
Strong
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
PDX1
(HGNC:6107)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
IL17RA
(HGNC:5985)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
IL11RA
(HGNC:5967)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
IKBKB
(HGNC:5960)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
IL10RB
(HGNC:5965)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
IGSF1
(HGNC:5948)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
IHH
(HGNC:5956)
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
BIRC3
(HGNC:591)
|
Weak
|
Moderate
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
AP4M1
(HGNC:574)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
AP3B1
(HGNC:566)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|