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


Level 2: Neurology
Version 4.3
Latest signed off version: v4.0 (30 Apr 2025)

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 2: Neurology
Version 9.32
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperekplexia 4, 618011
Green ATAD1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperekplexia 4, OMIM:618011
Green ATAD1 in Intellectual disability


Level 2: Developmental disorders
Version 9.370
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
    • Expert list
    Phenotypes
    • Hyperekplexia 4, OMIM:618011
    Tags
    • treatable