PANK2

pantothenate kinase 2
OMIM: 606157
PanelMode of inheritanceDetails
5 panels
R-numbers: R56
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 1, OMIM:234200
R-numbers: R57
Signed-off version 2.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, pantothenate kinase-associated neurodegeneration, Neurodegeneration with brain iron accumulation 1, 234200
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome 607236, Neurodegeneration with brain iron accumulation 234200
R-numbers: R58
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Neurodegeneration with brain iron accumulation 1, OMIM:234200
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome, Neurodegeneration with brain iron accumulation 1