ATP9A

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ATP9A in Mendeliome


Version 1.4222

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242

Green ATP9A in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.405

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242

Green ATP9A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.363

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242

    Green ATP9A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.641

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242

    Amber ATP9A in Fetal anomalies


    Version 1.522

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242