Vici Syndrome and other autophagy disorders
Gene: SIL1Comment on list classification: Links between variants in SIL1 and Marinesco-Sjogren Syndrome have been documented both in the literature (please see PMIDs below) and within all four main sources (UKGTN, Emory, Radboud and Illumina). There are more than 3 unrelated cases documented in different populations with different mutations. It is important to note that genomic deletions encompassing this gene's coordinates have also been connected to the syndrome.Created: 12 Jul 2017, 12:50 p.m.
Is a confirmed DD gene for Marinesco-Sjogren syndrome.Created: 29 Apr 2016, 7:35 a.m.
Comment on mode of inheritance: Source: G2P and OMIM.Created: 29 Apr 2016, 7:35 a.m.
Phenotypes for gene: SIL1 were changed from Marinesco-sjoegren syndrome (wuth phenotypical overlap with Vici syndrome) to Marinesco-sjoegren syndrome (with phenotypical overlap with Vici syndrome); Marinesco-Sjogren syndrome, 248800
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 SIL1 were set to 26927810; 27544240; 27106665; 26260654; 25982182; 25958341; 24176978
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SIL1 was changed to BIALLELIC, autosomal or pseudoautosomal
SIL1 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
SIL1 was created by ellenmcdonagh