1. Panels
  2. Hereditary neuropathy or pain disorder
  3. HK1
Genes in panel
Prev Next

Hereditary neuropathy or pain disorder

Gene: HK1

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

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Created: 29 Apr 2019, 9:26 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.80

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 29 Apr 2019, 9:20 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Source: reviews and OMIM.
Created: 4 May 2016, 11:43 a.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.
Created: 4 May 2016, 11:42 a.m.
Created: 4 May 2016, 11:42 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285
OMIM
142600
Clinvar variants
Variants in HK1
Penetrance
None
Panels with this gene

History Filter Activity

3 Nov 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HK1 were changed from Neuropathy, hereditary motor and sensory, Russe type, 605285; Hemolytic anemia due to hexokinase deficiency, 235700 to Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HK1 was added gene: HK1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285; Hemolytic anemia due to hexokinase deficiency, 235700