Genomics England

TPP1

tripeptidyl peptidase 1

Panel	Mode of inheritance	Details
Filter panels10 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 4.40	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 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 2 204500
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	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 Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500, NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 (CLN2)
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 Intellectual disability, Ceroid lipofuscinosis, neuronal, 2, CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal), Hereditary ataxia
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	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 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ceroid lipofuscinosis, neuronal, 2 OMIM:204500, neuronal ceroid lipofuscinosis 2 MONDO:0008769
Green in Neuronal ceroid lipofuscinosis type 2 R-numbers: R271 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Retinal disorders R-numbers: R32 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Ceroid lipofuscinosis, neuronal, 2, 204500