Hereditary ataxia with onset in adulthood
Gene: SCYL1EnsemblGeneIds (GRCh38): ENSG00000142186
EnsemblGeneIds (GRCh37): ENSG00000142186
OMIM: 607982, Gene2Phenotype
SCYL1 is in 8 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset phenotype.Created: 26 May 2021, 11:03 a.m. | Last Modified: 26 May 2021, 11:03 a.m.
Panel Version: 2.67
Zornitza Stark (Australian Genomics)
This is a paediatric onset disorder.Created: 12 Sep 2020, 8 a.m. | Last Modified: 12 Sep 2020, 8 a.m.
Panel Version: 2.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Sufficient families reported across the two main papers, including multiple different variantsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744
- OMIM
- 607982
- Clinvar variants
- Variants in SCYL1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_phenotype was removed from gene: SCYL1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to SCYL1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 to Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_phenotype tag was added to gene: SCYL1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SCYL1 were changed from Autosomal recessive to Spinocerebellar ataxia, autosomal recessive 21, 616719
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: SCYL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: scyl1 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Autosomal recessive for gene: SCYL1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SCYL1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: SCYL1 was added gene: SCYL1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SCYL1 was set to