Genomics England

PANK2

pantothenate kinase 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.5	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 7.10	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 6.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dystonia, pantothenate kinase-associated neurodegeneration, Neurodegeneration with brain iron accumulation 1, 234200
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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HARP syndrome 607236, Neurodegeneration with brain iron accumulation 234200
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HARP syndrome, OMIM:607236, Neurodegeneration with brain iron accumulation 1, OMIM:234200
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HARP syndrome, 607236, Neurodegeneration with brain iron accumulation 1, 234200
Green in Retinal disorders R-numbers: R32 Signed-off version 7.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HARP syndrome, Neurodegeneration with brain iron accumulation 1