PanelApp (stage)
  1. Genes and Genomic Entities
  2. ATP2B1

ATP2B1

ATPase plasma membrane Ca2+ transporting 1
OMIM: 108731, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ATP2B1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 66, MIM# 619910

Green ATP2B1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 66, MIM# 619910

    Green ATP2B1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 66, MIM# 619910