Cerebral Palsy
Gene: SYNE1EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 11 panels
3 reviews
Clare van Eyk (University of Adelaide)
2 additional individuals reported with homozygous stopgain variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Additional pair of monozygotic twins with compound heterozygous variants in SYNE1 and childhood onset ataxia, cerebellar hypoplasia, dysarthria, and cognitive impairment (PMID: 30275942).Created: 24 Jun 2024, 3:59 a.m. | Last Modified: 24 Jun 2024, 3:59 a.m.
Panel Version: 1.294
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
Luisa Weiss (University of Adelaide)
Two cases each in two larger CP cohort studies, one with ataxic and one with spastic CP, with biallelic SYNE1 mutations.
In addition, one case report of an 18-year-old girl with CP and a heterozygous SYNE1-mutation. Not that this patient had a history of perinatal distress and asphyxia. The SYNE1 mutation was discovered at the age of 18 years due to a hypertrophic cardiomyopathy. It is uncertain whether the SYNE1 mutation is the cause for the CP.Created: 6 Aug 2023, 11:10 p.m. | Last Modified: 6 Aug 2023, 11:10 p.m.
Panel Version: 1.185
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
- OMIM
- 608441
- Clinvar variants
- Variants in SYNE1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SYNE1 were changed from Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 to Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SYNE1 were set to 34321325; 34816117
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: syne1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: syne1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: SYNE1 was added gene: SYNE1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 34321325; 34816117 Phenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 Review for gene: SYNE1 was set to AMBER