Arthrogryposis
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
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No association with arthrogryposisCreated: 22 Dec 2016, 3:22 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 608005
- Clinvar variants
- Variants in SIL1
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Non-syndromic familial congenital anorectal malformations
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Acute rhabdomyolysis
- Hereditary ataxia with onset in adulthood
- Congenital muscular dystrophy
- DDG2P
- Vici Syndrome and other autophagy disorders
- Rhabdomyolysis and metabolic muscle disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Hereditary neuropathy
- Arthrogryposis
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
22 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SIL1 was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SIL1 was added to Arthrogryposispanel. Sources: Expert list