1. Genes and Genomic Entities
  2. PI4KA

PI4KA

phosphatidylinositol 4-kinase alpha
OMIM: 600286, Gene2Phenotype

13 panels

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

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.45

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


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Neurology
    Version 8.63
    Latest signed off version: v8.0 (30 Apr 2025)

    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 2: Neurology
    Version 7.30
    Latest signed off version: v7.0 (30 Oct 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


    Level 2: Immunology
    Version 8.78
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 1.186

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


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		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 1.86

    		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


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

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


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

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