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
-
- Intellectual disability
- Non-syndromic familial congenital anorectal malformations
- Bilateral congenital or childhood onset cataracts
- Vici Syndrome and other autophagy disorders
- Hereditary ataxia
- Fetal anomalies
- 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
- Acute rhabdomyolysis
- Congenital muscular dystrophy
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