This Panel is marked as Internal
Genomic imprinting
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
2 reviews
Sarah Leigh (Genomics England Curator)
Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human)Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26
Ellen McDonagh (Genomics England Curator)
myoclonus-dystonia is a recognised minor clinical feature of SRS caused by maternal uniparental disomy of chr7http://omim.org/entry/604149. This is (a) gene in imprinted regions, in which point mutations / indels are associated with disease (e.g. CDKN1C); (b) gene for which alteration of effective copy number is associated with disease (though mutations in the transcript are currently not identified).Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
From the Parkinson Disease and Complex Parkinsonism gene panel
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Literature
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
-
- Phenotype resulting from under expression: upper body myoclonus, dystonia
- Affected tissue: brain
- OMIM
- 604149
- Clinvar variants
- Variants in SGCE
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
22 Dec 2020, Gel status: 3
Added New Source, Set publications
Sarah Leigh (Genomics England Curator)Source Literature was added to SGCE. Publications for gene SGCE were updated from PMID: 25209853; 23237735; 23365103 to 30794780; PMID: 25209853; 23365103; 23237735; http://igc.otago.ac.nz/home.html
4 May 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 May 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SGCE was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain
4 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SGCE was created by ellenmcdonagh