COASY

Coenzyme A synthase
OMIM: 609855, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Amber COASY in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290
Green COASY in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290
Amber COASY in Ataxia and cerebellar anomalies - narrow panel Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290 Pontocerebellar hypoplasia, type 12, OMIM:618266 pontocerebellar hypoplasia, type 12, MONDO:0032643
Green COASY in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290
Amber COASY in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 Pontocerebellar hypoplasia, type 12, OMIM:618266 arthrogryposis, MONDO:0008779 Tags watchlist Q2_24_promote_green Q2_24_NHS_review
Green COASY in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Pontocerebellar hypoplasia, type 12, OMIM:618266 pontocerebellar hypoplasia, type 12, MONDO:0032643
Amber COASY in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.73	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis Tags watchlist
Green COASY in Adult onset neurodegenerative disorder Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes COASY protein-associated neurodegeneration Neurodegeneration with brain iron accumulation 6, OMIM:615643
Amber COASY in Likely inborn error of metabolism - targeted testing not possible Version 5.1 Latest signed off version: v5.0 (1 May 2024) 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 Expert Review Amber Expert list Phenotypes Neurodegeneration with brain iron accumulation 6, 615643 Pontocerebellar hypoplasia, type 12, 618266
Red COASY in Possible mitochondrial disorder - nuclear genes Version 3.106 Latest signed off version: v3.105 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Pontocerebellar hypoplasia, type 12, 618266 Neurodegeneration with brain iron accumulation 6, 615643
Green COASY in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Green COASY in DDG2P Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Green COASY in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290 Pontocerebellar hypoplasia, type 12, OMIM:618266 pontocerebellar hypoplasia, type 12, MONDO:0032643
Amber COASY in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290 Pontocerebellar hypoplasia, type 12, OMIM:618266 pontocerebellar hypoplasia, type 12, MONDO:0032643
Green COASY in Hereditary ataxia with onset in adulthood Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Pontocerebellar hypoplasia type 12, 618266 Neurodegeneration with brain iron accumulation 6, 615643
Red COASY in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes COASY protein-associated neurodegeneration Neurodegeneration with brain iron accumulation 6 Neurodegeneration with brain iron accumulation 6 615643
Green COASY in Childhood onset dystonia, chorea or related movement disorder Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Neurodegeneration with brain iron accumulation 6 615643 COASY protein-associated neurodegeneration
Green COASY in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neurodegeneration with brain iron accumulation 6, 615643 Pontocerebellar hypoplasia, type 12, 618266