Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SCYL1

Amber List (moderate evidence)

SCYL1 (SCY1 like pseudokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000142186
EnsemblGeneIds (GRCh37): ENSG00000142186
OMIM: 607982, Gene2Phenotype
SCYL1 is in 7 panels

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719
  • acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744
Tags
Q2_21_rating
OMIM
607982
Clinvar variants
Variants in SCYL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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