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Retinal disorders

Gene: HK1

Green List (high evidence)

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

4 reviews

Ivone Leong (Genomics England Curator)

Submitted on behalf of NHS GMS "Amber or keep as green - dominant missense variant p.(Glu847Lys) reported many times in the literature." and "This gene is currently amber. It seems clear that the p.E847K variant is associated with retinal disease so I think that it should be green, even if retinal disease is restricted to this variant."
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:27 a.m.
Panel Version: 2.243
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the available information I do not think the variant found in multiple cases is due to a founder effect, because of this this gene should be considered to be promoted to Green status at the next review.
Created: 12 Jan 2021, 10:49 a.m. | Last Modified: 12 Jan 2021, 10:49 a.m.
Panel Version: 2.120

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Subsequent reported families are Asian, but with same recurrent missense. I am not convinced this is founder effect. Gene is associated with multiple phenotypes and this particular missense may have a specific effect that results in this particular phenotype. The variant is however present in 3 hets in gnomad (2 Asian, 1 European). This frequency may be compatible with AD retinitis pigmentosa.

However, also note PMID 30778173, where other mono-allelic variants have been linked to a neurodevelopmental disorder which includes visual impairment, and for this reason Green rating on this panel may still be appropriate.
Created: 11 Oct 2020, 4:04 a.m. | Last Modified: 11 Oct 2020, 4:07 a.m.
Panel Version: 2.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 79, MIM# 617460

Publications

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
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320
Tags
founder-effect
OMIM
142600
Clinvar variants
Variants in HK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: HK1.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to HK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

12 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: HK1.

12 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HK1 were set to 25190649; 25316723

12 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HK1 were changed from Retinitis pigmentosa 79 617460 to Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320

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

Added New Source

Ellen McDonagh (Genomics England Curator)

HK1 was added to Posterior segment abnormalitiespanel. Sources: Other

15 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HK1 was created by ellenmcdonagh