Monogenic hearing loss
Gene: ADGRV1The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 10:16 a.m. | Last Modified: 30 Jan 2023, 10:16 a.m.
Panel Version: 3.7
MOI should be changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BIALLELIC, autosomal or pseudoautosomal". Digenic dominant is in association with PDZD7, which was reported in PMID: 20440071 in 2010. There are no further reported cases to date. Therefore the MOI should be changed to Biallelic until further evidence is available.Created: 28 Feb 2022, 9:16 a.m. | Last Modified: 28 Feb 2022, 9:16 a.m.
Panel Version: 2.218
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Inheritance:Autosomal dominant;Autosomal recessive;Digenic dominantCreated: 9 Feb 2016, 10:05 a.m.
Inheritance:Digenic dominant;Autosomal dominant;Autosomal recessiveCreated: 7 Feb 2016, 7:02 p.m.
Inheritance:Autosomal recessive;Digenic dominant;Autosomal dominantCreated: 7 Feb 2016, 4:47 p.m.
Inheritance:Autosomal dominant;Digenic dominant;Autosomal recessiveCreated: 7 Feb 2016, 3:38 p.m.
Inheritance:Autosomal recessive,Autosomal dominant,Digenic dominantCreated: 7 Feb 2016, 9:20 a.m.
Mode of inheritance
Other
Phenotypes
#604352:?Febrile seizures, familial, 4[Seizures, generalized, associated with feverGeneralized tonic-clonic seizuresHypertonic seizuresHypotonic seizuresSeizures occur in absence of intracranial infection or defined pathologic or traumatic causeSeizures usually last less than 15 minutesSeizures recur in 33% of patientsPatients show normal psychomotor developmentBetween 2 and 7% of children will develop afebrile seizure disorders later in life]; #605472:Usher syndrome, type 2C, GPR98/PDZD7 digenic[Hearing loss, congenital sensorineural, moderate-severe; Retinitis pigmentosa, progressive]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 2:27 p.m.
apparently ADGRV1 is GPR98Created: 13 Oct 2015, 8:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Changed due to second reviewer and checking on OMIM it seems AR and Digenic Dominant are possible modes of inheritance.Created: 17 Feb 2016, 11:57 a.m.
Reviewers please check that this is the correct gene. It is referred to as 'GPR98' by all sources, however the HGNC approved symbol is ADGRV1.Created: 24 Jun 2015, 2:28 p.m.
Tag Q1_22_MOI was removed from gene: ADGRV1.
Source NHS GMS was added to ADGRV1. Mode of inheritance for gene ADGRV1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag Q1_22_MOI tag was added to gene: ADGRV1.
Publications for gene: ADGRV1 were set to PMID:10234513; 10976914; 11545713; 11606593; 12095917; 12402266; 14740321; 15820310; 18854872; 19357116; 19357117; 20440071; 22147658; 9598305; 9734811
Publications for ADGRV1 were set to PMID:10234513; 10976914; 11545713; 11606593; 12095917; 12402266; 14740321; 15820310; 18854872; 19357116; 19357117; 20440071; 22147658; 9598305; 9734811
Mode of inheritance for ADGRV1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for ADGRV1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ADGRV1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
ADGRV1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
ADGRV1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
ADGRV1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert