Monogenic hearing loss
Gene: GRHL2EnsemblGeneIds (GRCh38): ENSG00000083307
EnsemblGeneIds (GRCh37): ENSG00000083307
OMIM: 608576, Gene2Phenotype
GRHL2 is in 6 panels
5 reviews
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:47 p.m.
Comment on mode of inheritance: AD is indicated by OMIM, but AR by reviewer.Created: 17 Feb 2016, 3:41 p.m.
Jun Shen (Harvard Medical School)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#608641:Deafness, autosomal dominant 28[Deafness, sensorineuralMild to moderate hearing loss across most frequenciesSevere loss in the higher frequencies by the fifth decade]; #616029:Ectodermal dysplasia/short stature syndrome[Short stature; Sensorineural deafness in early infancy (in some patients); Hyperpigmentation of the oral mucosaHyperpigmentation of the tongue; Delayed dentitionHypodontiaEnamel hypoplasia; Bronchial asthma (in some patients); Dysphagia (in some patients)Esophageal strictures (in some patients); Keratoderma of margins of palms and solesFocal hyperkeratosis of dorsum of hands and feet; Acanthosis, mildHyperkeratosis, mild; Dystrophic nailsAbsent nails]
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:32 p.m.
Details
- Mode of Inheritance
- 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
- OMIM
- 608576
- Clinvar variants
- Variants in GRHL2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GRHL2 were changed from hearing loss; Deafness, autosomal dominant 28, 608641; #616029: Ectodermal dysplasia/short stature syndrome to Deafness, autosomal dominant 28, OMIM:608641; Ectodermal dysplasia/short stature syndrome, OMIM:616029
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GRHL2 were set to hearing loss; Deafness, autosomal dominant 28, 608641;#616029: Ectodermal dysplasia/short stature syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GRHL2 were set to PMID:12393799; 20938050; 21610158; 23813623; 25152456
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GRHL2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for GRHL2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GRHL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)GRHL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)GRHL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)GRHL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert