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  3. SCYL1
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Ataxia - paediatric

Gene: SCYL1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Childhood onset, at least 7 unrelated families reported.
Created: 17 Apr 2020, 2:31 a.m. | Last Modified: 12 Sep 2020, 7:59 a.m.
Panel Version: 0.254

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy

Publications

Created: 17 Apr 2020, 2:31 a.m.
Last Modified: 12 Sep 2020, 7:59 a.m.
Panel version: 0.212

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21, 616719
  • Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
OMIM
607982
Clinvar variants
Variants in SCYL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21, 616719 to Spinocerebellar ataxia, autosomal recessive 21, 616719; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scyl1 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCYL1 were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCYL1 was added gene: SCYL1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719