Genomic imprinting
Gene: SGCE
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
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
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
This gene has been classified as Green List (High Evidence).
SGCE was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain
SGCE was created by ellenmcdonagh