Monogenic hearing loss
Gene: GRXCR1EnsemblGeneIds (GRCh38): ENSG00000215203
EnsemblGeneIds (GRCh37): ENSG00000215203
OMIM: 613283, Gene2Phenotype
GRXCR1 is in 1 panel
5 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:48 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613285:Deafness, autosomal recessive 25[Hearing loss, sensorineural, progressive (moderate to severe progress in some patients to profound hearing loss)Vestibular involvement (in some patients)]
Publications
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Nonsyndromic Hearing Loss, Recessive
- Deafness, autosomal recessive 25, 613285
- hearing loss
- OMIM
- 613283
- Clinvar variants
- Variants in GRXCR1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GRXCR1 were set to PMID:15347914; 20137774; 20137778
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GRXCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GRXCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GRXCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GRXCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)GRXCR1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert