Hereditary ataxia
Gene: SIL1
SIL1 (SIL1 nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000120725
EnsemblGeneIds (GRCh37): ENSG00000120725
OMIM: 608005, Gene2Phenotype
SIL1 is in 18 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from OMIM and expert reviewerCreated: 4 Feb 2016, 5:12 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Loads of evidence in litCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Marinesco-Sjogren syndrome, 248800
- OMIM
- 608005
- Clinvar variants
- Variants in SIL1
- Penetrance
- Complete
- Panels with this gene
-
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Non-syndromic familial congenital anorectal malformations
- Hereditary neuropathy
- DDG2P
- Vici Syndrome and other autophagy disorders
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia with onset in adulthood
- Acute rhabdomyolysis
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
History Filter Activity
9 Jan 2019, Gel status: 3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SIL1 was added to Hereditary ataxiapanel. Sources: UKGTN