Congenital muscular dystrophy
Gene: SIL1EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 18 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to amber. SIL1 is associated with Marinesco-Sjogren syndrome in OMIM and Gene2Phenotype. There are >3 unrelated cases reported in OMIM so in terms of evidence, there is enough evidence to support a gene-disease association. Muscular dystrophy is one of the characteristics of Marinesco-Sjogren syndrome; however, clinical input as to whether SIL1 belongs in this panel is needed.Created: 7 Aug 2019, 10:21 a.m. | Last Modified: 7 Aug 2019, 10:21 a.m.
Panel Version: 1.56
Louise Daugherty (Genomics England Curator)
Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association.Created: 9 Oct 2019, 12:03 p.m. | Last Modified: 9 Oct 2019, 12:03 p.m.
Panel Version: 1.61
Reviewed by Genomics England clinical team who noted it is associated with a raised CK, muscle weakness and abnormalities on biopsy so a relevant phenotype. The GLH representative has rated it green so would support green rating. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.Created: 9 Oct 2019, 12:02 p.m. | Last Modified: 9 Oct 2019, 12:02 p.m.
Panel Version: 1.60
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, 248800
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London South GLH
- Phenotypes
-
- Marinesco-Sjogren syndrome, OMIM:248800
- OMIM
- 608005
- Clinvar variants
- Variants in SIL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Non-syndromic familial congenital anorectal malformations
- Hereditary neuropathy
- DDG2P
- Fetal anomalies
- Vici Syndrome and other autophagy disorders
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia with onset in adulthood
- Acute rhabdomyolysis
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Hereditary ataxia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome, 248800 to Marinesco-Sjogren syndrome, OMIM:248800
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: sil1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sil1 has been classified as Amber List (Moderate Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene SIL1 were changed from to 11528383
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: SIL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SIL1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SIL1 was added gene: SIL1 was added to Congenital muscular dystrophy. Sources: London South GLH Mode of inheritance for gene: SIL1 was set to