HOXA2

homeobox A2
OMIM: 604685, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green HOXA2 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microtia with or without hearing impairment, MIM# 612290

Green HOXA2 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

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

Green HOXA2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Microtia with or without hearing impairment, MIM# 612290

Red HOXA2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ear anomalies and orofacial clefting
  • Microtia, Hearing Impairment, and Cleft Palate
  • Cleft palate
  • ?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)

Green HOXA2 in Fetal anomalies


Version 1.255

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microtia with or without hearing impairment (AD) - MIM#612290