PLA2G6

phospholipase A2 group VI
OMIM: 603604, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green PLA2G6 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 Green Expert Radboud University Medical Center, Nijmegen Phenotypes Infantile neuroaxonal dystrophy 1, 256600 Neurodegeneration with brain iron accumulation 2B, 610217 Parkinson disease 14, 612953 Early Onset Complex Disease
Green PLA2G6 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 PLA2G6-associated neurodegeneration
Green PLA2G6 in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Infantile neuroaxonal dystrophy 1 (#256600) Parkinson disease 14 (#612953) Neurodegeneration with brain iron accumulation 2B (#610217)
Green PLA2G6 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Infantile neuroaxonal dystrophy 1 (#256600) Neurodegeneration with brain iron accumulation 2B (#610217) Parkinson disease 14 (#612953)
Green PLA2G6 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 Infantile neuroaxonal dystrophy 1 256600 Neurodegeneration with brain iron accumulation 2B 610217 Parkinson disease 14, autosomal recessive 612953
Green PLA2G6 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 Parkinson disease 14, autosomal recessive, OMIM:612953 Neurodegeneration with brain iron accumulation 2B, OMIM:610217
Green PLA2G6 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile neuroaxonal dystrophy 1 256600 Neurodegeneration with brain iron accumulation 2B 610217 Parkinson disease 14, autosomal recessive 612953
Green PLA2G6 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 list London North GLH NHS GMS Expert Review Green Phenotypes Infantile neuroaxonal dystrophy 1
Red PLA2G6 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B INFANTILE NEUROAXONAL DYSTROPHY 1
Green PLA2G6 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600
Amber PLA2G6 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Literature Phenotypes Infantile neuroaxonal dystrophy 1, OMIM:256600 neurodegeneration with brain iron accumulation 2A, MONDO:0024457 Neurodegeneration with brain iron accumulation 2B, OMIM:610217 neurodegeneration with brain iron accumulation 2B, MONDO:0012444 Parkinson disease 14, autosomal recessive, OMIM:612953 autosomal recessive Parkinson disease 14, MONDO:0013060 Tags watchlist_moi Q4_23_promote_green
Green PLA2G6 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) 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 Radboud University Medical Center, Nijmegen Phenotypes Infantile neuroaxonal dystrophy 1, 256600Neurodegeneration with brain iron accumulation 2B, 610217Parkinson disease 14, 612953 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
Amber PLA2G6 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Infantile neuroaxonal dystrophy 1, OMIM:256600 neurodegeneration with brain iron accumulation 2A, MONDO:0024457 Neurodegeneration with brain iron accumulation 2B, OMIM:610217 neurodegeneration with brain iron accumulation 2B, MONDO:0012444 Parkinson disease 14, autosomal recessive, OMIM:612953 autosomal recessive Parkinson disease 14 MONDO:0013060 Tags Q3_23_promote_green
Green PLA2G6 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Parkinson disease 14 (#612953) Autosomal recessive Parkinson disease 14, 612953 Infantile neuroaxonal dystrophy 1 (#256600) Neurodegeneration with brain iron accumulation 2B, 610217 Neurodegeneration with brain iron accumulation 2B (#610217) Infantile neuroaxonal dystrophy 1, 256600
Green PLA2G6 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 NHS GMS London North GLH Expert Review Green Phenotypes Parkinson disease 14, autosomal recessive, OMIM:612953 Neurodegeneration with brain iron accumulation 2B, OMIM:610217
Green PLA2G6 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes Neurodegeneration with brain iron accumulation 2B 610217 Parkinson disease 14, autosomal recessive 612953 Infantile neuroaxonal dystrophy 1 256600 PLA2G6-associated neurodegeneration
Green PLA2G6 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Infantile neuroaxonal dystrophy 1, 256600 Parkinson disease 14, autosomal recessive, 612953 Neurodegeneration with brain iron accumulation 2B, 610217