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 |
|
AP1S2
(HGNC:560)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
IGHMBP2
(HGNC:5542)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
AP2S1
(HGNC:565)
|
Strong
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
NOTCH2NLC
(HGNC:53924)
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
IGFBP7
(HGNC:5476)
|
Strong
|
Strong
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
IGFALS
(HGNC:5468)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
ANXA11
(HGNC:535)
|
Strong
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
|
|
IARS1
(HGNC:5330)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
HSD17B4
(HGNC:5213)
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HSPA9
(HGNC:5244)
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
Strong
|
Strong
|
|
|
DNAJB2
(HGNC:5228)
|
Strong
|
Moderate
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
|
|
HSF4
(HGNC:5227)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Moderate
|
|
|
HRG
(HGNC:5181)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
|
|
HR
(HGNC:5172)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
DUX4
(HGNC:50800)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
|
|
HPD
(HGNC:5147)
|
Moderate
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Moderate
|
|
|
HOXD13
(HGNC:5136)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HOXC13
(HGNC:5125)
|
Strong
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
HOXD10
(HGNC:5133)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Moderate
|
|
|
HOXA9
(HGNC:5109)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|