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  2. Rhabdomyolysis and Metabolic Myopathy
  3. SIL1
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Rhabdomyolysis and Metabolic Myopathy

Gene: SIL1

Green List (high evidence)
SIL1 (SIL1 nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 12 panels

3 reviews

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 2 May 2022, 4:51 a.m.
Last Modified: 2 May 2022, 4:51 a.m.
Panel version: Imported from Mendeliome panel version 0.13592

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Created: 24 Jun 2020, 8:43 a.m.
Last Modified: 24 Jun 2020, 8:43 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version Imported from Muscular dystrophy panel version 0.32

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported in patients with the associated condition,which is an infantile-onset multisystem disorder that affects brain, eyes and skeletal muscles. Myopathy is a prominent feature.
Created: 15 Jun 2020, 6:47 a.m. | Last Modified: 15 Jun 2020, 6:47 a.m.
Panel Version: 0.176

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Marinesco-Sjogren syndrome (MIM#248800)

Publications

Created: 15 Jun 2020, 6:47 a.m.
Last Modified: 15 Jun 2020, 6:47 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.176

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Marinesco-Sjogren syndrome 248800
OMIM
608005
Clinvar variants
Variants in SIL1
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, 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 Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome 248800