Congenital Diarrhoea
Gene: AP1S1
AP1S1 (adaptor related protein complex 1 sigma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000106367
EnsemblGeneIds (GRCh37): ENSG00000106367
OMIM: 603531, Gene2Phenotype
AP1S1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000106367
EnsemblGeneIds (GRCh37): ENSG00000106367
OMIM: 603531, Gene2Phenotype
AP1S1 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ee Ming Wong (Victorian Clinical Genetics Services)
- 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 muta
Sources: LiteratureCreated: 5 Oct 2020, 5:13 a.m. | Last Modified: 5 Oct 2020, 5:13 a.m.
Panel Version: 0.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Non-syndromic congenital intestinal failure
Publications
- PMID: 32306098
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Non-syndromic congenital intestinal failure
- OMIM
- 603531
- Clinvar variants
- Variants in AP1S1
- Penetrance
- None
- Publications
-
- PMID: 32306098
- Panels with this gene
History Filter Activity
5 Oct 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
5 Oct 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ap1s1 has been classified as Amber List (Moderate Evidence).
5 Oct 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ee Ming Wong (Victorian Clinical Genetics Services)gene: AP1S1 was added gene: AP1S1 was added to Congenital Diarrhoea. Sources: Literature Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1S1 were set to PMID: 32306098 Phenotypes for gene: AP1S1 were set to Non-syndromic congenital intestinal failure