1. Genes and Genomic Entities
  2. HOXA2

HOXA2

homeobox A2
OMIM: 604685, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green HOXA2 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.37

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microtia, Hearing Impairment, and Cleft Palate
  • 612290
  • Microtia with or without hearing impairment (AD) 612290 AD, AR
  • Microtia, hearing impairment, and cleft palate (AR) 612290
  • dominant bilateral microtia
  • recessive family also reported
Red HOXA2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Microtia with or without hearing impairment (AD), OMIM:612290
Green HOXA2 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Microtia, Hearing Impairment, and Cleft Palate
    • Microtia, Hearing Impairment, and Cleft Palate
    • #612290:?Microtia, hearing impairment, and cleft palate (AR)
    Red HOXA2 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Microtia, Hearing Impairment, and Cleft Palate
    • Ear anomalies and orofacial clefting
    • ?Microtia with or without hearing impairment (includes clefting), 612290, (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
    • ?Microtia with or without hearing impairment (includes clefting), 612290, (BIALLELIC, autosomal or pseudoautosomal)
    • Cleft palate