Monogenic hearing loss
Gene: GRHL2
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:32 p.m.
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
Phenotypes for GRHL2 were set to hearing loss; Deafness, autosomal dominant 28, 608641;#616029: Ectodermal dysplasia/short stature syndrome
Publications for GRHL2 were set to PMID:12393799; 20938050; 21610158; 23813623; 25152456
Mode of inheritance for GRHL2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for GRHL2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GRHL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
GRHL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
GRHL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
GRHL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert