Genomics England
GMS Panels
Panels
Genes and Entities

PANK2

pantothenate kinase 2
OMIM: 606157
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 1, OMIM:234200
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 4.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Neurodegeneration with brain iron accumulation 1, OMIM:234200
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, pantothenate kinase-associated neurodegeneration, Neurodegeneration with brain iron accumulation 1, 234200
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome 607236, Neurodegeneration with brain iron accumulation 234200
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome, Neurodegeneration with brain iron accumulation 1