HK1

hexokinase 1
OMIM: 142600, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green HK1 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Enzyme Disorder
  • Hemolytic anemia due to hexokinase deficiency, 235700

Green HK1 in Rare anaemia


Version 1.9
Signed off v.1.2 on 3 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 235700 Hemolytic anemia due to hexokinase deficiency
  • Hemolytic anemia due to hexokinase deficiency, 235700
  • 235700 Enzyme Disorder
  • Hemolytic anemia due to hexokinase deficiency
  • Enzyme Disorder

Green HK1 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary motor and sensory, Russe type, 605285
  • Hemolytic anemia due to hexokinase deficiency, 235700
  • Neuropathy, hereditary motor and sensory, Russe type, 605285

Green HK1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.714
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Hemolytic anemia due to hexokinase deficiency, 235700
    • Neuropathy, hereditary motor and sensory, Russe type, 605285
    • Abnormal muscle tone
    • Global developmental delay
    • Intellectual disability
    • Visual impairment
    • Neurological speech impairment
    • Ataxia
    Tags
    • missense

    Amber HK1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.120
    Signed off v.2.7 on 25 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Other
    Phenotypes
    • Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320
    Tags
    • for-review
    • founder-effect

    Green HK1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.19
    Signed off v.1.2 on 27 Feb 2020

    review 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

    Green HK1 in Severe Paediatric Disorders


    Version 1.42

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Retinitis pigmentosa 79, 617460
    • Hemolytic anemia due to hexokinase deficiency, 235700
    • Neurodevelopmental disorder with visual defects and brain anomalies, 618547
    • Neuropathy, hereditary motor and sensory, Russe type, 605285