Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: AVPR2mutations cause diabetes insipidus not diabetes mellitusCreated: 18 Oct 2015, 8:07 a.m.
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.
Tag curated_removed tag was added to gene: AVPR2.
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.
This gene has been removed from the panel.
This gene has been removed from the panel.
Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
AVPR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
Model of inheritance for gene AVPR2 was changed to X-LINKED
AVPR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services
AVPR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen