Renal tubulopathies

Gene: AP2S1

Green List (high evidence)

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

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient cases to rate green.
Created: 4 Sep 2019, 3:38 p.m. | Last Modified: 4 Sep 2019, 3:38 p.m.
Panel Version: 1.87
Associated with Hypocalciuric hypercalcemia, type III (#600740) in OMIM.

PMID: 23222959 - Nesbit et al 2013 - in 2 unrelated 3-generation families segregating autosomal dominant hypocalciuric hypercalcemia they identified a heterozygous missense mutation in the AP2S1 gene (R15C). DNA sequence analysis of the 5 exons and 8 intron-exon boundaries of AP2S1 of a further 50 unrelated patients in whom CaSR mutations had been excluded, found a further 11 probands from 10 families, with missense heterozygous mutations, consistent with autosomal dominant inheritance of familial hypocalciuric hypercalcemia type 3, that all affected Arg15.
Created: 29 Aug 2019, 3:57 p.m. | Last Modified: 29 Aug 2019, 3:57 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: AP2S1; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial hypocalciuric hypercalcemia type III MIM 600740

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial hypocalciuric hypercalcemia type III 600740
OMIM
602242
Clinvar variants
Variants in AP2S1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ap2s1 has been classified as Green List (High Evidence).

4 Sep 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: AP2S1 were set to

4 Sep 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

17 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: AP2S1 were changed from to Familial hypocalciuric hypercalcemia type III 600740

3 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: AP2S1 was added gene: AP2S1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: AP2S1 was set to