Intellectual disability update Jan 2018
Gene: HK1

HK1 (hexokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000156515
EnsemblGeneIds (GRCh37): ENSG00000156515
OMIM: 142600, Gene2Phenotype
HK1 is in 10 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Associated with Hemolytic anemia due to hexokinase deficiency (MIM:235700), Neuropathy, hereditary motor and sensory, Russe type (MIM:605285) and Retinitis pigmentosa 79 (MIM:617460) in OMIM. No evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.
Created: 21 Feb 2018, 10:59 a.m.

Created: 21 Feb 2018, 10:59 a.m.

Panel version: 0.70

Details

Sources

Expert Review Red
BRIDGE study SPEED NEURO Tier1 Gene

OMIM

142600

Clinvar variants

Variants in HK1

Penetrance

None

Panels with this gene

History Filter Activity

21 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HK1 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber