Genomics England

PLA2G6

phospholipase A2 group VI

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Parkinson disease 14, autosomal recessive, OMIM:612953, Neurodegeneration with brain iron accumulation 2B, OMIM:610217
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Parkinson disease 14, autosomal recessive, OMIM:612953, Neurodegeneration with brain iron accumulation 2B, OMIM:610217
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Infantile neuroaxonal dystrophy 1 (#256600), Parkinson disease 14 (#612953), Neurodegeneration with brain iron accumulation 2B (#610217)
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodegeneration with brain iron accumulation 2B 610217, Parkinson disease 14, autosomal recessive 612953, Infantile neuroaxonal dystrophy 1 256600, PLA2G6-associated neurodegeneration
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	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 in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	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 in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Infantile neuroaxonal dystrophy 1, 256600Neurodegeneration with brain iron accumulation 2B, 610217Parkinson disease 14, 612953, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Infantile neuroaxonal dystrophy 1
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	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