Ataxia - paediatric
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
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Marinesco-Sjogren syndrome, 248800
- OMIM
- 608005
- Clinvar variants
- Variants in SIL1
- Penetrance
- None
- 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
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SIL1 was added gene: SIL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800