Ectodermal Dysplasia
Gene: GRHL2EnsemblGeneIds (GRCh38): ENSG00000083307
EnsemblGeneIds (GRCh37): ENSG00000083307
OMIM: 608576, Gene2Phenotype
GRHL2 is in 9 panels
3 reviews
Ain Roesley (Victorian Clinical Genetics Services)
2 more unrelated probands with ectodermal dysplasia/short stature syndrome. 1x originally described in PMID: 19415813Created: 4 Jan 2022, 12:06 a.m. | Last Modified: 4 Jan 2022, 12:13 a.m.
Panel Version: 0.63
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/short stature syndrome MIM#616029
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Association of bi-allelic variants and ectodermal dysplasia: moderate level of evidence, two families reported.
Association of mono allelic variants and corneal dystrophy: PMID:29499165 - Three variants in the regulatory region of GRHL2 identified in 6 families. c.20+544G>T segregates in 19 affected over 4 generations and was identified in another 3 families in one case de novo. Two further intronic variants identified in two families c.20+257delT. Note not tractable by all NGS assays.
Association between mono-allelic families and deafness: well established, multiple families.Created: 17 May 2021, 9:13 a.m. | Last Modified: 17 May 2021, 9:13 a.m.
Panel Version: 0.7634
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/short stature syndrome MIM#616029; Corneal dystrophy, posterior polymorphous, 4, MIM# 618031; Deafness, autosomal dominant 28, MIM# 608641
Publications
Bryony Thompson (Royal Melbourne Hospital)
Two unrelated consanguineous families with homozygous missense variants and some supporting assays on keratinocytes from cases.
Sources: NHS GMSCreated: 17 May 2021, 7:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia/short stature syndrome MIM#616029
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ectodermal dysplasia/short stature syndrome MIM#616029
- OMIM
- 608576
- Clinvar variants
- Variants in GRHL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GRHL2 were set to 25152456
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: grhl2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: grhl2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GRHL2 was added gene: GRHL2 was added to Ectodermal Dysplasia. Sources: NHS GMS Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRHL2 were set to 25152456 Phenotypes for gene: GRHL2 were set to Ectodermal dysplasia/short stature syndrome MIM#616029 Review for gene: GRHL2 was set to AMBER