Description
There is currently no eligibility statement for this disorder.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • emma baple (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

5 genes

5 reviewed, 2 green

List Gene Reviews Mode of inheritance Details
5 genes
Green Green List (high evidence)
AQP2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800
  • Nephrogenic Diabetes Insipidus
Tags
  • treatable
Green Green List (high evidence)
AVPR2
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Diabetes insipidus, nephrogenic, 304800
  • Nephrogenic Diabetes Insipidus
  • Diabetes Insipidus, Nephrogenic, X-Linked
  • nephrogenic diabetes insipidus (commonest cause, affected females also reported often with a milder and later presentation)
Tags
  • treatable
Red Red List (low evidence)
AVP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus,neurohypophyseal,125700
Red Red List (low evidence)
SLC12A1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis
  • associated with Barter syndrome and secondary inherited NDI only
Red Red List (low evidence)
WFS1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Wolfram syndrome-1
  • Wolfram syndrome, central/neurogenic diabetes insipidus only

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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