Hereditary Neuropathy - complex
Gene: SCYL1EnsemblGeneIds (GRCh38): ENSG00000142186
EnsemblGeneIds (GRCh37): ENSG00000142186
OMIM: 607982, Gene2Phenotype
SCYL1 is in 7 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Characterised by onset of cerebellar ataxia with cerebellar atrophy in early childhood.
Affected individuals have recurrent episodes of liver failures in the first decade and can have a later onset of peripheral neuropathy.
PMID: 26581903
Three individuals from two unrelated families with a truncating compound heterozygous variant in SCYL1.
Two siblings with ataxia like phenotypes as well as liver disease developed hereditary motor and sensory neuropathy at a later age while the other individual had a CMT like phenotype and developed neuropathy in early adolescence.
A mouse model showed that in the presence of a variant in SCYL1 the mice developed a cerebellar ataxia phenotype with peripheral neuropathy.
PMID: 30531813
Individual with early onset cerebellar syndrome (tremor, ataxia and dysmetria) with axonal motor polyneuropathy. A homozygous frameshift mutation was detected in the individual Cys512Leufs*8.Created: 9 Aug 2023, 3:17 a.m. | Last Modified: 9 Aug 2023, 3:17 a.m.
Panel Version: 0.237
Phenotypes
Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719); acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719)
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744)
- Spinocerebellar ataxia, autosomal recessive 21
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scyl1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy to Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719); acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744); Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SCYL1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SCYL1 was added gene: SCYL1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy