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Hereditary neuropathy NOT PMP22 copy number

Gene: HK1

Green List (high evidence)

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

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

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

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, 605285
  • Hemolytic anemia due to hexokinase deficiency, 235700
OMIM
142600
Clinvar variants
Variants in HK1
Penetrance
None
Panels with this gene

History Filter Activity

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