Cerebral Palsy
Gene: SGCE
SGCE (sarcoglycan epsilon)
EnsemblGeneIds (GRCh38): ENSG00000127990
EnsemblGeneIds (GRCh37): ENSG00000127990
OMIM: 604149, Gene2Phenotype
SGCE is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000127990
EnsemblGeneIds (GRCh37): ENSG00000127990
OMIM: 604149, Gene2Phenotype
SGCE is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: LiteratureCreated: 27 May 2024, 1:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia-11, myoclonic, MIM#159900
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia-11, myoclonic, MIM#159900
- OMIM
- 604149
- Clinvar variants
- Variants in SGCE
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sgce has been classified as Red List (Low Evidence).
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sgce has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: SGCE was added gene: SGCE was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SGCE were set to PMID: 38693247 Phenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM#159900 Review for gene: SGCE was set to RED