Genomics England

TPP1

tripeptidyl peptidase 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autosomal recessive spinocerebellar ataxia 7 (#607998), Neuronal ceroid lipfuscinosis 7 (204500)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500
Green in Genetic epilepsy syndromes R-numbers: R59 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 2 204500
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270, Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270, Neuronal ceroid lipofuscinosis, 204500
Green in Inborn errors of metabolism 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 Intellectual disability, Ceroid lipofuscinosis, neuronal, 2, CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal), Hereditary ataxia
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500, NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 (CLN2)
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 2 OMIM:204500, neuronal ceroid lipofuscinosis 2 MONDO:0008769
Green in Neuronal ceroid lipofuscinosis R-numbers: R231 Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Retinal disorders R-numbers: R32 Signed-off version 3.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Ceroid lipofuscinosis, neuronal, 2, 204500