Structural eye disease
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
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
FC - ocular phenotype can includes cataracts. For example, see PMID: 16282977: 9 families with biallelic mutations in SIL1 and congenital/early-onset cataractCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome; 248800
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - ocular phenotype can includes cataracts. For example, see PMID: 16282977: 9 families with biallelic mutations in SIL1 and congenital/early-onset cataractCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Marinesco-Sjogren syndrome; 248800
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Phenotypes
-
- Marinesco-Sjogren syndrome, 248800
- OMIM
- 608005
- Clinvar variants
- Variants in SIL1
- Penetrance
- None
- 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
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Hereditary ataxia
- Fetal anomalies
History Filter Activity
17 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SIL1 was added gene: SIL1 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800