Vici Syndrome and other autophagy disorders
Gene: SIL1EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 18 panels
2 reviews
Olivia Niblock (Genomics England Curator)
Comment 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.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Marinesco-sjoegren syndrome (with phenotypical overlap with Vici syndrome)
- Marinesco-Sjogren syndrome, 248800
- Tags
- OMIM
- 608005
- Clinvar variants
- Variants in SIL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Non-syndromic familial congenital anorectal malformations
- Hereditary neuropathy
- DDG2P
- Vici Syndrome and other autophagy disorders
- Intellectual disability
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia with onset in adulthood
- Acute rhabdomyolysis
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Congenital muscular dystrophy
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
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.
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Olivia Niblock (Genomics England Curator)Publications for SIL1 were set to 26927810; 27544240; 27106665; 26260654; 25982182; 25958341; 24176978
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SIL1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SIL1 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
Created
Ellen McDonagh (Genomics England Curator)SIL1 was created by ellenmcdonagh