1. Genes and Genomic Entities
  2. ATP9A

ATP9A

ATPase phospholipid transporting 9A (putative)
OMIM: 609126, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber ATP9A in Severe microcephaly


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental delay
  • Postnatal microcephaly
  • Failure to thrive
  • Gastrointestinal symptoms
  • Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242
Green ATP9A 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
    • ATP9A-related neurodevelopmental disorder
    Green ATP9A 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Postnatal microcephaly
    • Failure to thrive
    • Abnormality of the abdomen
    • Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242