GRHL2

grainyhead like transcription factor 2
OMIM: 608576, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green GRHL2 in Ectodermal dysplasia


Level 2: Dermatology
Version 4.23
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia/short stature syndrome, OMIM:616029
Red GRHL2 in Congenital fibrosis of the extraocular muscles


Level 2: Ophthalmology
Version 2.3
Latest signed off version: v2.0 (30 Apr 2025)

review Unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
Phenotypes
  • congenital fibrosis of extraocular muscles, MONDO:0007614
Green GRHL2 in Corneal dystrophy


Level 2: Ophthalmology
Version 4.7
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Corneal dystrophy, posterior polymorphous, 4, OMIM:618031
Amber GRHL2 in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Green GRHL2 in DDG2P


Version 6.424
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
    • ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029
    Green GRHL2 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
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Deafness, autosomal dominant 28, OMIM:608641
    • Ectodermal dysplasia/short stature syndrome, OMIM:616029