1. Genes and Genomic Entities
  2. PI4KA

PI4KA

phosphatidylinositol 4-kinase alpha
OMIM: 600286, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Amber PI4KA in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Tags
  • watchlist
Green PI4KA in White matter disorders and cerebral calcification - narrow panel


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

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
    Green PI4KA in Ataxia and cerebellar anomalies - narrow panel


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
    Green PI4KA in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.4
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
    Green PI4KA in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
    Green PI4KA in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
    Red PI4KA in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.1
    Latest signed off version: v6.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531
    Green PI4KA in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
    Amber PI4KA in Childhood onset hereditary spastic paraplegia


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
    Green PI4KA in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
    Green PI4KA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
    Red PI4KA in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531