HOXA1

homeobox A1
OMIM: 142955, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green HOXA1 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green HOXA1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Athabaskan brainstem dysgenesis syndrome MIM#601536
  • Bosley-Salih-Alorainy syndrome MIM#601536

Amber HOXA1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536

    Green HOXA1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Athabaskan brainstem dysgenesis syndrome MIM#601536
    • Bosley-Salih-Alorainy syndrome MIM#601536

    Green HOXA1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green HOXA1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Athabaskan brainstem dysgenesis syndrome, 601536 (3)

    Red HOXA1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Athabaskan brainstem dysgenesis syndrome

    Green HOXA1 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Athabaskan brainstem dysgenesis syndrome
    • Bosley-Salih-Alorainy syndrome - 601536

    Green HOXA1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Athabaskan brainstem dysgenesis syndrome MIM#601536
    • Bosley-Salih-Alorainy syndrome MIM#601536
    Tags
    • founder

    Green HOXA1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Athabaskan brainstem dysgenesis syndrome, 601536 (3)

    Red HOXA1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Athabaskan brainstem dysgenesis syndrome