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Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ADGRV1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Usher syndrome, type 2C, 605472 (3) | Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
  • Usher syndrome, type 2C, 605472
OMIM
602851
Clinvar variants
Variants in ADGRV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3