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 |
|
HINT1
(HGNC:4912)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
HIBCH
(HGNC:4908)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
HERC2
(HGNC:4868)
|
Weak
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
|
|
HGD
(HGNC:4892)
|
Moderate
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
HCN1
(HGNC:4845)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
HCCS
(HGNC:4837)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
HARS1
(HGNC:4816)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
HBZ
(HGNC:4835)
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
Moderate
|
|
|
HSD17B10
(HGNC:4800)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
HAND2
(HGNC:4808)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Moderate
|
Moderate
|
|
|
HADHB
(HGNC:4803)
|
Moderate
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
AMT
(HGNC:473)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
H3C2
(HGNC:4776)
|
Weak
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GYS1
(HGNC:4706)
|
Weak
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
H1-4
(HGNC:4718)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
GYS2
(HGNC:4707)
|
Moderate
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
|
|
GYPA
(HGNC:4702)
|
Weak
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|
|
AMPD2
(HGNC:469)
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
AMPD1
(HGNC:468)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
|
|
GYG1
(HGNC:4699)
|
Moderate
|
Moderate
|
Strong
|
Weak
|
Strong
|
Strong
|
|