1. Genes and Genomic Entities
  2. ATP11A

ATP11A

ATPase phospholipid transporting 11A
OMIM: 605868, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber ATP11A in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.11
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 24, OMIM:619851
    Tags
    • Q1_25_ promote_green
    No list ATP11A in Auditory Neuropathy Spectrum Disorde

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 1.10

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Auditory synaptopathy/neuropathy
    • AUNA2
    Amber ATP11A in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 24, OMIM:619851
    Red ATP11A in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Neurodevelopmental disorder
    Tags
    • watchlist
    Green ATP11A in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Deafness, autosomal dominant 84, OMIM:619810
    Amber ATP11A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder
    Tags
    • watchlist