INPP4A

inositol polyphosphate-4-phosphatase type I A
OMIM: 600916, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green INPP4A in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 9.10
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354
    • neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
    Green INPP4A in Severe microcephaly


    Level 2: Neurology
    Version 9.9
    Latest signed off version: v9.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • microcephaly, MONDO:0001149
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354
    • neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
    Green INPP4A in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354
    • neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
    Green INPP4A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.26
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354
    • neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
    Green INPP4A in DDG2P


    Version 7.7
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Green INPP4A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.23
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • epilepsy, MONDO:0005027
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354
    • neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
    Green INPP4A in Intellectual disability


    Level 2: Developmental disorders
    Version 10.46
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, OMIM:621354
    • neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MONDO:0980699
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071