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  2. Ataxia and cerebellar anomalies - narrow panel
  3. SCYL1
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Ataxia and cerebellar anomalies - narrow panel

Gene: SCYL1

Green List (high evidence)
SCYL1 (SCY1 like pseudokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000142186
EnsemblGeneIds (GRCh37): ENSG00000142186
OMIM: 607982, Gene2Phenotype
SCYL1 is in 8 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Created: 5 Feb 2023, 5:18 p.m.
Last Modified: 5 Feb 2023, 5:18 p.m.
Panel version: 3.30

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least nine variants reported in at least seven cases.
Created: 26 May 2021, 11:14 a.m. | Last Modified: 26 May 2021, 11:14 a.m.
Panel Version: 2.187
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 26 May 2021, 11:13 a.m. | Last Modified: 26 May 2021, 11:13 a.m.
Panel Version: 2.187
Created: 26 May 2021, 11:13 a.m.
Last Modified: 26 May 2021, 11:13 a.m.
Panel version: 2.187

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy. At least 7 unrelated families reported.
Sources: Expert list
Created: 12 Sep 2020, 7:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Sep 2020, 7:59 a.m.

Panel version: 2.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
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
Publications
Panels with this gene

History Filter Activity

5 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: SCYL1.

5 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to SCYL1. Source NHS GMS was added to SCYL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

26 May 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SCYL1.

26 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: scyl1 has been classified as Amber List (Moderate Evidence).

26 May 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719 to Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744

12 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SCYL1 was added gene: SCYL1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL1 were set to 29419818; 17571074; 26581903; 30531813 Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719 Review for gene: SCYL1 was set to GREEN gene: SCYL1 was marked as current diagnostic