SGCE

sarcoglycan epsilon
OMIM: 604149, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SGCE in Genomic imprinting Version 0.149	review	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
Red SGCE in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Red Expert list Phenotypes Myoclonus-Dystonia maternally imprinted Dystonia-11, myoclonic, 159900 Myoclonus dystonia syndrome
Green SGCE in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Myoclonus-Dystonia maternally imprinted Dystonia-11, myoclonic, 159900 Myoclonus dystonia syndrome
Red SGCE in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Myoclonus dystonia syndrome Myoclonus-Dystonia maternally imprinted Dystonia-11, myoclonic, 159900
Red SGCE in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dystonia-11, myoclonic, 159900
Green SGCE in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia-11, myoclonic, OMIM:159900
Green SGCE in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources PanelApp Expert Review Green London North GLH Phenotypes Myoclonus-Dystonia maternally imprinted Dystonia-11, myoclonic, 159900 Myoclonus dystonia syndrome
Green SGCE in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Dystonia-11, myoclonic, 159900