Vici Syndrome and other autophagy disorders
Gene: AP1S1
AP1S1 (adaptor related protein complex 1 sigma 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000106367
EnsemblGeneIds (GRCh37): ENSG00000106367
OMIM: 603531, Gene2Phenotype
AP1S1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000106367
EnsemblGeneIds (GRCh37): ENSG00000106367
OMIM: 603531, Gene2Phenotype
AP1S1 is in 8 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green after discussion with Emma Baple (South West GMC and Genomics England); as there is a second, independent case with a different variant, plus functional data, it was decided that this gene should be promoted to green.Created: 31 Jul 2017, 10:33 a.m.
Olivia Niblock (Genomics England Curator)
Comment on list classification: In light of 3 literature papers describing MEDNIK in terms of autophagy and mutations in AP1S1, I have upgraded this gene to amber. However: it must be noted that the patient cases described in the literature are likely to be linked to a founder effect. 5 children from 3 families in Quebec, Canada (all with the same mutation) and 1 patient from a consanguineous Sephardic-Jewish background are described (a different mutation in AP1S1).Created: 16 Jun 2017, 12:35 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- MEDNIK syndrome
- mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
- Tags
- OMIM
- 603531
- Clinvar variants
- Variants in AP1S1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 Jul 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
31 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
16 Jun 2017, Gel status: 2
Set publications
Olivia Niblock (Genomics England Curator)Publications for AP1S1 were set to 26927810; 19057675; 24754424; 23423674
16 Jun 2017, Gel status: 2
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
29 Apr 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene AP1S1 were set to MEDNIK syndrome; mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)AP1S1 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)AP1S1 was created by ellenmcdonagh