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 |
|
DNAJB2
(HGNC:5228)
|
Weak
|
Weak
|
Moderate
|
Moderate
|
Weak
|
Moderate
|
|
|
HSF4
(HGNC:5227)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Weak
|
Strong
|
|
|
HRG
(HGNC:5181)
|
Weak
|
Weak
|
Weak
|
Weak
|
Strong
|
Moderate
|
|
|
HR
(HGNC:5172)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
DUX4
(HGNC:50800)
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
|
|
HPD
(HGNC:5147)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
HOXD13
(HGNC:5136)
|
Weak
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
|
|
HOXC13
(HGNC:5125)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
HOXD10
(HGNC:5133)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
HOXA9
(HGNC:5109)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|
|
HOXA13
(HGNC:5102)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Moderate
|
Moderate
|
|
|
HOXA11
(HGNC:5101)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
HNRNPU
(HGNC:5048)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
HMGCS2
(HGNC:5008)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
FOXA2
(HGNC:5022)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
HNRNPK
(HGNC:5044)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MNX1
(HGNC:4979)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|
|
HLCS
(HGNC:4976)
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RIPK4
(HGNC:496)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
HK1
(HGNC:4922)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Weak
|
Moderate
|
|