STRs in panel
Prev Next
Regions in panel
Prev Next

Monogenic nephrogenic diabetes insipidus

Gene: SLC12A1

Red List (low evidence)

SLC12A1 (solute carrier family 12 member 1)
EnsemblGeneIds (GRCh38): ENSG00000074803
EnsemblGeneIds (GRCh37): ENSG00000074803
OMIM: 600839, Gene2Phenotype
SLC12A1 is in 7 panels

2 reviews

emma baple (Genomics England Curator)

Red List (low evidence)

Phenotypes
associated with Barter syndrome and secondary inherited NDI only

Ellen McDonagh (Genomics England Curator)

I don't know

4 cases (one set of siblings) reported in PMID: 28095294, homozygous or compound heterozygous each associated with hypercalcemia, primary hyperparathyroidism, nephrogenic diabetes insipidus, and nephrocalcinosis.
Created: 26 Apr 2017, 2:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis

Publications

Details

Mode of Inheritance
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
OMIM
600839
Clinvar variants
Variants in SLC12A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC12A1 were set to hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis;associated with Barter syndrome and secondary inherited NDI only

9 May 2017, Gel status: 1

panel promoted to version 1

emma baple (Genomics England Curator)

Ready for use in tiering

9 May 2017, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC12A1 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: Literature

26 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC12A1 was created by ellenmcdonagh