Cataract
Gene: SIL1
SIL1 (SIL1 nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 12 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Well reported in patients with the associated condition,which is an infantile-onset multisystem disorder that affects brain, eyes and skeletal muscles. Early onset cataracts is a significant feature.Created: 24 Jun 2020, 1:03 a.m. | Last Modified: 24 Jun 2020, 1:03 a.m.
Panel Version: 0.146
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
- Victorian Clinical Genetics Services
- 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
24 Jun 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sil1 has been classified as Green List (High Evidence).
24 Jun 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome (MIM#248800)
24 Jun 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SIL1 were set to
24 Jun 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SIL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SIL1 was added gene: SIL1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SIL1 was set to Unknown