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Intellectual disability

Gene: AP2S1

Amber List (moderate 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

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Created: 3 Dec 2020, 3:33 p.m. | Last Modified: 3 Dec 2020, 3:33 p.m.
Panel Version: 3.575

Zornitza Stark (Australian Genomics)

I don't know

Established hypercalcaemia gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 5 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating).
Sources: Literature
Created: 3 Nov 2020, 11:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorder

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Developmental disorder
Tags
watchlist
OMIM
602242
Clinvar variants
Variants in AP2S1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ap2s1 has been classified as Amber List (Moderate Evidence).

3 Dec 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: AP2S1.

3 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: AP2S1 was added gene: AP2S1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AP2S1 were set to 33057194 Phenotypes for gene: AP2S1 were set to Developmental disorder Review for gene: AP2S1 was set to AMBER