Liver Failure_Paediatric
Gene: SCYL1EnsemblGeneIds (GRCh38): ENSG00000142186
EnsemblGeneIds (GRCh37): ENSG00000142186
OMIM: 607982, Gene2Phenotype
SCYL1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur.
More than 5 unrelated families reported.
Sources: Expert listCreated: 1 Nov 2020, 7:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 21, MIM#616719
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 21, MIM#616719
- OMIM
- 607982
- Clinvar variants
- Variants in SCYL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scyl1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scyl1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SCYL1 was added gene: SCYL1 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL1 were set to 26581903; 29419818; 30531813 Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, MIM#616719 Review for gene: SCYL1 was set to GREEN