TPP1:Ensemblv115

tripeptidyl peptidase 1
OMIM: 607998, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green TPP1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 Parkinsonism
Green TPP1 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green 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 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769
Green TPP1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769
Red TPP1 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Red Phenotypes Hoyeraal-Hreidarsson syndrome
Red TPP1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Red Phenotypes Ceroid lipofuscinosis neuronal 2, MIM#204500
Green TPP1 in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ceroid lipofuscinosis, neuronal, 2 204500
Green TPP1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2, OMIM #204500
Green TPP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Green TPP1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green 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 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease) Tags for review treatable metabolic
Green TPP1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 Spinocerebellar ataxia, autosomal recessive 7 MIM#609270