PGK1

phosphoglycerate kinase 1
OMIM: 311800, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Red PGK1 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9

review Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
Green PGK1 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Phosphoglycerate kinase 1 deficiency 300653
    Green PGK1 in Glycogen storage disease


    Version 2.4
    Latest signed off version: v2.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    Phenotypes
    • Phosphoglycerate kinase 1 deficiency 300653
    Amber PGK1 in Rare anaemia


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    • London South GLH
    Phenotypes
    • 300653 Phosphoglycerate kinase 1 deficiency
    Red PGK1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.33
    Latest signed off version: v4.32 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Phosphoglycerate kinase 1 deficiency, 300653
    Green PGK1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.620

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Phosphoglycerate kinase 1 deficiency 300653
    Green PGK1 in Likely inborn error of metabolism - targeted testing not possible


    Version 5.8
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Phosphoglycerate kinase 1 deficiency
    Red PGK1 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
    Green PGK1 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653
    Green PGK1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Phosphoglycerate kinase 1 deficiency, 300653
    • PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (PGK1D)
    Amber PGK1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.11
    Latest signed off version: v5.0 (1 May 2024)

    review Not set
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Red PGK1 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green PGK1 in Severe Paediatric Disorders


    Version 1.184

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Phosphoglycerate kinase 1 deficiency, 300653
    Green PGK1 in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Phosphoglycerate kinase 1 deficiency, OMIM:300653