Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: HK1

Amber List (moderate evidence)

HK1 (hexokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000156515
EnsemblGeneIds (GRCh37): ENSG00000156515
OMIM: 142600, Gene2Phenotype
HK1 is in 7 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

I don't know

I suspect this is worth keeping
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 families reported, however seems to be a founder effect, therefore evidence for other variants in this gene is not yet established.
Created: 15 Aug 2017, 8:03 a.m.
One missense variant reported so far. In PMID: 25190649 haplotype analysis in the 5 families, 3 of which were from the Acadian population in Louisiana, 1 French Canadian, and 1 Sicilian, demonstrated a shared 450-kb region on chromosome 10, suggesting a founder mutation.
Created: 15 Aug 2017, 8 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 79 617460

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Other
Phenotypes
  • Retinitis pigmentosa 79 617460
Tags
founder-effect
OMIM
142600
Clinvar variants
Variants in HK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 2

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HK1.

15 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HK1 was created by ellenmcdonagh

15 Aug 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HK1 was added to Posterior segment abnormalitiespanel. Sources: Other