TPP1

tripeptidyl peptidase 1
OMIM: 607998
PanelMode of inheritanceDetails
10 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2 204500
R-numbers: R54
Signed-off version 5.3
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2, 204500, NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 (CLN2)
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Ceroid lipofuscinosis, neuronal, 2, CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal), Hereditary ataxia
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
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
R-numbers: R271
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Ceroid lipofuscinosis, neuronal, 2, 204500