PLA2G6

phospholipase A2 group VI
OMIM: 603604, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green PLA2G6 in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	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 1.152	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes PLA2G6-associated neurodegeneration
Green PLA2G6 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) 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 1.344	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 1.40	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
No list PLA2G6 in Lipodystrophy - childhood onset Level 2: Endocrinology Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Literature Phenotypes none
Green PLA2G6 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 1.642	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 Level 2: Metabolic Version 8.91 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 Expert list London North GLH NHS GMS Expert Review Green Phenotypes Infantile neuroaxonal dystrophy 1
Red PLA2G6 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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
Green PLA2G6 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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
Green PLA2G6 in Intellectual disability Level 2: Developmental disorders Version 9.285 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 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
Green PLA2G6 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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
Green PLA2G6 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	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 Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Neurodegeneration with brain iron accumulation 2B, OMIM:610217 Infantile neuroaxonal dystrophy 1, OMIM:256600
Green PLA2G6 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	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