Hearing loss
Gene: ADGRV1Inheritance: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.
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