TPP1

tripeptidyl peptidase 1
OMIM: 607998, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green TPP1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.43 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 Parkinsonism
Green TPP1 in Mendeliome Version 1.3499	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769 Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270 MONDO:0012235
Green TPP1 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.23 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769 Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270 MONDO:0012235
Green TPP1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.263 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769
Green TPP1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.590	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769
Red TPP1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.135 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hoyeraal-Hreidarsson syndrome
Green TPP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270
Green TPP1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.58 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270 Neuronal ceroid lipofuscinosis, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Ceroid lipofuscinosis, neuronal, 2, 204500
Red TPP1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.102 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Ceroid lipofuscinosis neuronal 2, MIM#204500
Green TPP1 in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2 204500
Green TPP1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ceroid lipofuscinosis, neuronal, 2, OMIM #204500
Green TPP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Green TPP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Neuronal ceroid lipofuscinosis
Green TPP1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 Spinocerebellar ataxia, autosomal recessive 7 MIM#609270
Green TPP1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease) Tags for review treatable metabolic
Green TPP1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 Spinocerebellar ataxia, autosomal recessive 7 MIM#609270