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 |
|
KCNQ3
(HGNC:6297)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
KCNK4
(HGNC:6279)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
KCNE3
(HGNC:6243)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Weak
|
|
|
ITPR3
(HGNC:6182)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
ITGA7
(HGNC:6143)
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Moderate
|
|
|
IRF3
(HGNC:6118)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
INPP4B
(HGNC:6075)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
IMPG1
(HGNC:6055)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
APOA4
(HGNC:602)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
APOA2
(HGNC:601)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Moderate
|
Strong
|
|
|
IL2RB
(HGNC:6009)
|
Moderate
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
IGSF3
(HGNC:5950)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
IGLL1
(HGNC:5870)
|
Moderate
|
Strong
|
Weak
|
Weak
|
Moderate
|
Moderate
|
|
|
IGL
(HGNC:5853)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
AP4S1
(HGNC:575)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
AP4E1
(HGNC:573)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
AP4B1
(HGNC:572)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
IGK
(HGNC:5715)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
AP3B2
(HGNC:567)
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
|
|
AP1S1
(HGNC:559)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|