GRHL2

grainyhead like transcription factor 2
OMIM: 608576, Gene2Phenotype

6 panels

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


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 1.16
Latest signed off version: v1.2 (3 Mar 2020)

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


Version 3.10
Latest signed off version: v3.2 (22 Mar 2023)

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


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

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


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

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 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    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