Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Marinesco-Sjogren syndrome, 248800
- OMIM
- 608005
- Clinvar variants
- Variants in SIL1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Non-syndromic familial congenital anorectal malformations
- Bilateral congenital or childhood onset cataracts
- Vici Syndrome and other autophagy disorders
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Structural eye disease
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- DDG2P
- Hereditary ataxia, adult onset
- Fetal anomalies
- Acute rhabdomyolysis
- Congenital muscular dystrophy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SIL1 was added gene: SIL1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal