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Autoinflammatory Disorders
Gene: AP1S3

AP1S3 (adaptor related protein complex 1 sigma 3 subunit)
EnsemblGeneIds (GRCh38): ENSG00000152056
EnsemblGeneIds (GRCh37): ENSG00000152056
OMIM: 615781, Gene2Phenotype
AP1S3 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Fifteen individuals reported, with two common founder variants, p.Arg33Trp and p.Phe4Cys. Some inherited from unaffected parents; present in general population, therefore likely susceptibility alleles. Functional data support role of auto inflammation in pathogenesis.
Created: 9 Apr 2020, 12:46 a.m. | Last Modified: 9 Apr 2020, 12:46 a.m.

Panel Version: 0.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Psoriasis 15, pustular, susceptibility to} 616106

Publications

Created: 9 Apr 2020, 12:46 a.m.
Last Modified: 9 Apr 2020, 12:46 a.m.
Panel version: 0.44

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

{Psoriasis 15, pustular, susceptibility to} 616106

OMIM

Clinvar variants

Variants in AP1S3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap1s3 has been classified as Amber List (Moderate Evidence).

9 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP1S3 were changed from to {Psoriasis 15, pustular, susceptibility to} 616106

9 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP1S3 were set to 24791904; 27388993

9 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP1S3 were set to

9 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap1s3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP1S3 was added gene: AP1S3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: AP1S3 was set to Unknown