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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

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