PLA2G6

phospholipase A2 group VI
OMIM: 603604
PanelMode of inheritanceDetails
10 panels
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
R-numbers: R58
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 14, autosomal recessive, OMIM:612953, Neurodegeneration with brain iron accumulation 2B, OMIM:610217
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1 (#256600), Parkinson disease 14 (#612953), Neurodegeneration with brain iron accumulation 2B (#610217)
R-numbers: R57
Signed-off version 5.0
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 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
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
R-numbers: R54
Signed-off version 6.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
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
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
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