Intestinal failure or congenital diarrhoea

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 9 panels

3 reviews

Eleanor Williams (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

After discussion with the Genomics England Clinical Team it was decided that it was appropriate to consider all evidence (including the cases that have an intestinal phenotype for this gene - MEDNIK syndrome), therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 4 May 2021, 9:51 a.m. | Last Modified: 4 May 2021, 9:51 a.m.
Panel Version: 1.39

Zornitza Stark (Australian Genomics)

I don't know

- Established gene-disease association 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 variants.
Sources: Literature
Created: 5 Oct 2020, 9:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non-syndromic congenital intestinal failure

Publications

Details

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

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: AP1S1.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to AP1S1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 May 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: AP1S1 were set to 32306098; 15668823, 19057675, 23423674, 30244301

4 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ap1s1 has been classified as Amber List (Moderate Evidence).

4 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: AP1S1.

4 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

4 May 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: AP1S1 were set to 32306098

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: AP1S1 was added gene: AP1S1 was added to Intestinal failure. Sources: Literature Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1S1 were set to 32306098 Phenotypes for gene: AP1S1 were set to Non-syndromic congenital intestinal failure Review for gene: AP1S1 was set to AMBER