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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 32047691 - only 1 AA at position 15 associated with disease - 9 cases of R15H reviewed
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • familial hypocalciuric hypercalcemia type III
OMIM
602242
Clinvar variants
Variants in AP2S1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to AP2S1. Added phenotypes familial hypocalciuric hypercalcemia type III for gene: AP2S1 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to AP2S1. Added phenotypes familial hypocalciuric hypercalcemia type III for gene: AP2S1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to AP2S1. Mode of pathogenicity for gene AP2S1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes familial hypocalciuric hypercalcemia type III for gene: AP2S1 Rating Changed from No List (delete) to Red List (low evidence)

27 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: AP2S1 was added gene: AP2S1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AP2S1 were set to familial hypocalciuric hypercalcemia type III