HOXA1

homeobox A1
OMIM: 142955, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green HOXA1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BOSLEY-SALIH-ALORAINY SYNDROME
  • ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
Green HOXA1 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BOSLEY-SALIH-ALORAINY SYNDROME 601536
    • ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME 601536
    Red HOXA1 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.41
    Latest signed off version: v6.34 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Amber HOXA1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.68
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Athabaskan brainstem dysgenesis syndrome, 601536
    • Bosley-Salih-Alorainy syndrome, 601536
    Tags
    • watchlist
    Green HOXA1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.9
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Bosley-Salih-Alorainy syndrome, 601536Athabaskan brainstem dysgenesis syndrome, 601536
    • BOSLEY-SALIH-ALORAINY SYNDROME (BSAS)