Vici Syndrome and other autophagy disordersGene: AP1S1
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.
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.
31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
This gene has been classified as Green List (High Evidence).
Publications for AP1S1 were set to 26927810; 19057675; 24754424; 23423674
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for gene AP1S1 were set to MEDNIK syndrome; mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
AP1S1 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
AP1S1 was created by ellenmcdonagh