Genomics England

ATP13A2

ATPase 13A2

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Kufor-Rakeb Syndrome OMIM:606693, Kufor-Rakeb syndrome MONDO:0011706
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Kufor-Rakeb syndrome, 606693 AR, Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 7.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Kufor-Rakeb syndrome, OMIM:606693, Dystonia, Spastic paraplegia 78, autosomal recessive, OMIM:617225
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Kufor-Rakeb syndrome 606693, Parkinson disease, Dystonia
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PARKINSON DISEASE 9 606693
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 78, autosomal recessive, OMIM:617225, Kufor-Rakeb syndrome, OMIM:606693, Kufor-Rakeb syndrome, MONDO:0011706, autosomal recessive spastic paraplegia type 78, MONDO:0014975
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PARKINSON DISEASE 9
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 Kufor-Rakeb syndrome
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 78, autosomal recessive OMIM:617225, autosomal recessive spastic paraplegia type 78 MONDO:0014975
Green in Neuronal ceroid lipofuscinosis R-numbers: R231 Signed-off version 2.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Kufor-Rakeb syndrome OMIM:606693, Kufor-Rakeb syndrome MONDO:0011706