GRHL2

Green GRHL2 in Ectodermal dysplasia

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

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)

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)

Sources

• Expert Review Green
• Wessex and West Midlands GLH

Phenotypes

• Corneal dystrophy, posterior polymorphous, 4, OMIM:618031

Amber GRHL2 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• PAGE DD-Gene2Phenotype

Phenotypes

• ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME

Green GRHL2 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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