GCDH

glutaryl-CoA dehydrogenase
OMIM: 608801, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red GCDH in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Green GCDH in Adult onset leukodystrophy Level 2: Neurology Version 6.10 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Glutaricaciduria, type I, OMIM:231670 glutaryl-CoA dehydrogenase deficiency, MONDO:0009281
Green GCDH in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature
Amber GCDH in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.19 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Dystonia Glutaricaciduria, type I, OMIM:231670
Green GCDH in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Phenotypes Glutaricaciduria, type I 231670
Green GCDH in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glutaricaciduria, type I, 231670
Green GCDH in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.158 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes GLUTARICACIDEMIA TYPE 1
Green GCDH in DDG2P Version 6.427 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUTARICACIDEMIA TYPE 1 231670
Green GCDH in Intellectual disability Level 2: Developmental disorders Version 9.325 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARICACIDEMIA TYPE 1
Red GCDH in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH
Green GCDH in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Dystonia Glutaricaciduria, type I, 231670
Green GCDH in Diagnostic testing for Glutaric acidaemia I Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutaricaciduria, type I, OMIM:231670