Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: AVPR2

Green List (high evidence)

AVPR2 (arginine vasopressin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000126895
EnsemblGeneIds (GRCh37): ENSG00000126895
OMIM: 300538, Gene2Phenotype
AVPR2 is in 9 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: AVPR2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Diabetes insipidus, nephrogenic, 304800 (3) | Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3); Mode of inheritance: X-linked recessive | X-linked recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Nephrogenic syndrome of inappropriate antidiuresis, 300539
  • Diabetes insipidus, nephrogenic, 304800
OMIM
300538
Clinvar variants
Variants in AVPR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3