Nephrocalcinosis or nephrolithiasis

Gene: AP2S1

Red List (low evidence)

AP2S1 (adaptor related protein complex 2 sigma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000042753
EnsemblGeneIds (GRCh37): ENSG00000042753
OMIM: 602242, Gene2Phenotype
AP2S1 is in 5 panels

2 reviews

Detlef Bockenhauer (GOSH-UCL)

Red List (low evidence)

Associated with low calcium excretion
Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.
Panel Version: 1.23

Fiona Karet (Universit y of Cambridge)

Red List (low evidence)

Not usually causing stones/n-calc
Created: 1 Nov 2015, 7:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
amilial hypocalciuric hypercalcemia type III

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypocalciuric hypercalcemia, familial, type III, 600740
  • Familial hypocalciuric hypercalcemia type III
OMIM
602242
Clinvar variants
Variants in AP2S1
Penetrance
Complete
Panels with this gene

History Filter Activity

20 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

20 May 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for AP2S1 were set to Hypocalciuric hypercalcemia, familial, type III, 600740; Familial hypocalciuric hypercalcemia type III

20 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for AP2S1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

AP2S1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen