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Hearing loss

Gene: ADGRV1

Green List (high evidence)

ADGRV1 (adhesion G protein-coupled receptor V1)
EnsemblGeneIds (GRCh38): ENSG00000164199
EnsemblGeneIds (GRCh37): ENSG00000164199
OMIM: 602851, Gene2Phenotype
ADGRV1 is in 12 panels

4 reviews

Jun Shen (Harvard Medical School)

Inheritance:Autosomal dominant;Autosomal recessive;Digenic dominant
Created: 9 Feb 2016, 10:05 a.m.
Inheritance:Digenic dominant;Autosomal dominant;Autosomal recessive
Created: 7 Feb 2016, 7:02 p.m.
Inheritance:Autosomal recessive;Digenic dominant;Autosomal dominant
Created: 7 Feb 2016, 4:47 p.m.
Inheritance:Autosomal dominant;Digenic dominant;Autosomal recessive
Created: 7 Feb 2016, 3:38 p.m.
Inheritance:Autosomal recessive,Autosomal dominant,Digenic dominant
Created: 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

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 2:27 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

apparently ADGRV1 is GPR98
Created: 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

Ellen McDonagh (Genomics England Curator)

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.

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
  • Febrile seizures, familial, 4, 604352
  • Syndromic and Non Syndromic Hearing Loss
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
  • Usher syndrome, type 2C, 605472
OMIM
602851
Clinvar variants
Variants in ADGRV1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADGRV1 were set to PMID:10234513; 10976914; 11545713; 11606593; 12095917; 12402266; 14740321; 15820310; 18854872; 19357116; 19357117; 20440071; 22147658; 9598305; 9734811

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ADGRV1 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 ADGRV1 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)

ADGRV1 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)

ADGRV1 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)

ADGRV1 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)

ADGRV1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert