ATAD1

ATPase family, AAA domain containing 1
OMIM: 614452, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ATAD1 in Paroxysmal central nervous system disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 4, 618011
Amber ATAD1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.29
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperekplexia 4, 618011
Green ATAD1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperekplexia 4, OMIM:618011
    Tags
    • treatable
    Green ATAD1 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperekplexia 4, 618011