Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: AVPR2EnsemblGeneIds (GRCh38): ENSG00000126895
EnsemblGeneIds (GRCh37): ENSG00000126895
OMIM: 300538, Gene2Phenotype
AVPR2 is in 7 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
mutations cause diabetes insipidus not diabetes mellitusCreated: 18 Oct 2015, 8:07 a.m.
Ellen McDonagh (Genomics England Curator)
Remove this gene from the panel.Created: 19 Oct 2015, 8:13 a.m.
Reviewers please note that this gene is associated with Diabetes insipidus phenotypes. Should this be included on the Diabetes with additional phenotypes suggestive of a monogenic aetiology panel?Created: 22 Jul 2015, 3:18 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Removed
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Diabetes insipidus, nephrogenic, 304800
- Nephrogenic syndrome of inappropriate antidiuresis, 300539
- Nephrogenic Diabetes Insipidus
- Diabetes Insipidus, Nephrogenic, X-Linked
- Tags
- OMIM
- 300538
- Clinvar variants
- Variants in AVPR2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: AVPR2.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)AVPR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene AVPR2 was changed to X-LINKED
Added New Source
Ellen McDonagh (Genomics England Curator)AVPR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)AVPR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen