PHKA2

phosphorylase kinase regulatory subunit alpha 2
OMIM: 300798, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PHKA2 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.4

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • hepatomegaly and mild hypoglycaemia
  • Glycogen storage disease, type IXa1, 306000
  • Glycogen storage disease, type IXa2, 306000
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease

Green PHKA2 in Glycogen storage disease


Version 1.4
Signed off v.1.2 on 18 Feb 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • London North GLH
  • Expert Review Green
Phenotypes
  • Glycogen storage disease, type IXa2 306000
  • Glycogen storage disease, type IXa1 306000

Green PHKA2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.422

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)
  • hepatomegaly and mild hypoglycaemia
  • Glycogen storage disease, type IXa1, 306000
  • Glycogen storage disease, type IXa2, 306000
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease

Green PHKA2 in Inborn errors of metabolism


Version 2.22
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Glycogen Storage Disease
    • Glycogen Storage Disorders- Liver
    • Glycogen storage disease, type IXa2, 306000
    • Glycogen storage disease, type IXa1, 306000
    • hepatomegaly and mild hypoglycaemia
    • Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)

    Red PHKA2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.363
    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 Not set
    Sources
    • Victorian Clinical Genetics Services

    Red PHKA2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.57
    Signed off v.1.48 on 20 Aug 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PHKA2 in Severe Paediatric Disorders


    Version 1.11

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glycogen storage disease, type IXa1, 306000
    • Glycogen storage disease, type IXa2, 306000