ATP2A1

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
OMIM: 108730, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ATP2A1 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.45

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Brody myopathy 601003

Red ATP2A1 in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Brody myopathy, 601003
  • Brody Myopathy

Red ATP2A1 in Paroxysmal central nervous system disorders


Version 1.44
Latest signed off version: v1.2 (27 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Brody myopathy, 601003

Red ATP2A1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Brody Myopathy
  • Brody myopathy, 601003

Red ATP2A1 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.89
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Brody Myopathy
    • Brody myopathy, 601003

    Green ATP2A1 in Skeletal muscle channelopathy


    Version 1.39
    Latest signed off version: v1.2 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Brody myopathy OMIM:601003

    Red ATP2A1 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.44
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Brody myopathy, 601003

    Green ATP2A1 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Brody myopathy, 601003