TPP1

tripeptidyl peptidase 1
OMIM: 607998, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red TPP1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Red TPP1 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green TPP1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive spinocerebellar ataxia 7 (#607998) Neuronal ceroid lipfuscinosis 7 (204500)
Green TPP1 in Lysosomal storage disorder Level 2: Metabolic Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH Phenotypes Ceroid lipofuscinosis, neuronal, 2 OMIM:204500 neuronal ceroid lipofuscinosis 2 MONDO:0008769
Green TPP1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270
Green TPP1 in Neuronal ceroid lipofuscinosis Level 2: Metabolic Version 3.2 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2 OMIM:204500 neuronal ceroid lipofuscinosis 2 MONDO:0008769
Red TPP1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270
Green TPP1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature Phenotypes CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal) Hereditary ataxia Intellectual disability Ceroid lipofuscinosis, neuronal, 2 204500
Green TPP1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Intellectual disability Ceroid lipofuscinosis, neuronal, 2 CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal) Hereditary ataxia
Red TPP1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 2
Green TPP1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500
Green TPP1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert Phenotypes Ceroid lipofuscinosis, neuronal, 2 204500
Green TPP1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 (CLN2)
Green TPP1 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270 Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Neuronal ceroid lipofuscinosis, 204500
Green TPP1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Eye Disorders Ceroid lipofuscinosis, neuronal, 2, 204500
Red TPP1 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500 Eye Disorders
Amber TPP1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Amber Phenotypes Spinocerebellar ataxia, autosomal recessive 7, 609270
Green TPP1 in Neuronal ceroid lipofuscinosis type 2 Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 2, OMIM:204500 neuronal ceroid lipofuscinosis 2, MONDO:0008769