Nephrocalcinosis or nephrolithiasis
Gene: AP2S1
AP2S1 (adaptor related protein complex 2 sigma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000042753
EnsemblGeneIds (GRCh37): ENSG00000042753
OMIM: 602242, Gene2Phenotype
AP2S1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000042753
EnsemblGeneIds (GRCh37): ENSG00000042753
OMIM: 602242, Gene2Phenotype
AP2S1 is in 5 panels
2 reviews
Detlef Bockenhauer (GOSH-UCL)
Associated with low calcium excretionCreated: 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)
Not usually causing stones/n-calcCreated: 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