Ectodermal dysplasia

Gene: GRHL2

Amber List (moderate evidence)

GRHL2 (grainyhead like transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000083307
EnsemblGeneIds (GRCh37): ENSG00000083307
OMIM: 608576, Gene2Phenotype
GRHL2 is in 6 panels

1 review

Catherine Snow (Genomics England)

I don't know

Comment on list classification: 2 unrelated consanguineous Kuwaiti families with short stature and ectodermal dysplasia syndrome were reported in PMID: 25152456 no further cases reported therefore classifying GRHL2 as Amber.
Created: 2 Dec 2019, 4:35 p.m. | Last Modified: 2 Dec 2019, 4:35 p.m.
Panel Version: 0.31
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: GRHL2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 3 Sep 2019, 4:20 p.m. | Last Modified: 3 Sep 2019, 4:20 p.m.
Panel Version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
OMIM
608576
Clinvar variants
Variants in GRHL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: grhl2 has been classified as Amber List (Moderate Evidence).

2 Dec 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: GRHL2 were set to

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: GRHL2 was added gene: GRHL2 was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal