Muscular dystrophy and myopathy_Paediatric
Gene: SIL1EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 12 panels
3 reviews
Samantha Ayres (Victorian Clinical Genetics Services)
Well established gene-disease association.
Infantile-onset, multi-system disorder that affects the brain, eyes and skeletal muscles.Created: 2 May 2022, 4:51 a.m. | Last Modified: 2 May 2022, 4:51 a.m.
Panel Version: 0.13592
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome, MIM#248800; MONDO#0009567
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Crystle Lee (Victorian Clinical Genetics Services)
Well reported in patients with the associated phenotype. Onset in infancy. Muscle weakness and elevated CK are consistent features of this phenotype. Myopathic changes observed in muscle biopsy.
Sources: Expert ReviewCreated: 24 Jun 2020, 12:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome (MIM#248800)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Marinesco-Sjogren syndrome (MIM#248800)
- OMIM
- 608005
- Clinvar variants
- Variants in SIL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Muscular dystrophy and myopathy_Paediatric
- Rhabdomyolysis and Metabolic Myopathy
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Cataract
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sil1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sil1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: SIL1 was added gene: SIL1 was added to Muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIL1 were set to 16282977; 24176978 Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome (MIM#248800)