HMX1

H6 family homeobox 1
OMIM: 142992, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green HMX1 in Deafness and congenital structural abnormalities

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 612109
  • Oculoauricular syndrome
  • syndromic features
  • Oculoauricular syndrome 612109
Green HMX1 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.11
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Oculoauricular syndrome
Green HMX1 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.14

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
Phenotypes
  • Oculoauricular syndrome 612109
Green HMX1 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Oculoauricular syndrome 612109
Green HMX1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.186
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Oculoauricular syndrome, OMIM:612109
Green HMX1 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • OCULOAURICULAR SYNDROME 612109
    Green HMX1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Green HMX1 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.43
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Oculoauricular syndrome 612109