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Mendeliome

Gene: AP1S1

Green List (high evidence)

AP1S1 (adaptor related protein complex 1 sigma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000106367
EnsemblGeneIds (GRCh37): ENSG00000106367
OMIM: 603531, Gene2Phenotype
AP1S1 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with MEDNIK syndrome.
Created: 5 Oct 2020, 6:33 a.m. | Last Modified: 5 Oct 2020, 6:33 a.m.
Panel Version: 0.4793

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MEDNIK syndrome 609313

Ee Ming Wong (Victorian Clinical Genetics Services)

I don't know

- Established green gene in Ichthyosis, Palmoplantar Keratoderma and Erythrokeratoderma, ID and Hereditary Neuropathy (complex) panels associated with MEDNIK syndrome
- PMID: 32306098 propose a clinical and genetic expansion for AP1S1-associated disease

- 2 consanguineous families, each carrying a homozygous missense AP1S1 variant
- AP1S1 knockout cell line demonstrated tight-junction and polarity abnormalities that were rescued by WT AP1S1, but not the AP1S1 missense mutants
Created: 5 Oct 2020, 4:43 a.m. | Last Modified: 5 Oct 2020, 5:12 a.m.
Panel Version: 0.4791

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
non-syndromic congenital intestinal failure

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MEDNIK syndrome 609313
  • non-syndromic congenital intestinal failure
OMIM
603531
Clinvar variants
Variants in AP1S1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap1s1 has been classified as Green List (High Evidence).

5 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP1S1 were changed from to MEDNIK syndrome 609313; non-syndromic congenital intestinal failure

5 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP1S1 were set to

5 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AP1S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP1S1 was added gene: AP1S1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AP1S1 was set to Unknown