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Hearing loss

Gene: GRHL2

Green List (high evidence)

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

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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 confirmed
Created: 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
  • hearing loss
  • Deafness, autosomal dominant 28, 608641
  • #616029: Ectodermal dysplasia/short stature syndrome
OMIM
608576
Clinvar variants
Variants in GRHL2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GRHL2 were set to PMID:12393799; 20938050; 21610158; 23813623; 25152456

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GRHL2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for GRHL2 was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 1

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