PLA2G6

phospholipase A2 group VI
OMIM: 603604
PanelMode of inheritanceDetails
8 panels
R-numbers: R56
Signed-off version 1.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PLA2G6-associated neurodegeneration, Parkinson disease 14, autosomal recessive 612953, Neurodegeneration with brain iron accumulation 2B 610217, Infantile neuroaxonal dystrophy 1 256600
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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 1.58
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE NEUROAXONAL DYSTROPHY 1 256600, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217
R-numbers: R54
Signed-off version 2.13
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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
R-numbers: R58
Signed-off version 2.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile neuroaxonal dystrophy 1, 256600, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation 2B, 610217, Infantile neuroaxonal dystrophy 1 (#256600), Neurodegeneration with brain iron accumulation 2B (#610217), Parkinson disease 14 (#612953), Parkinson disease 14, 612953, Early Onset Complex Disease