Hereditary ataxia with onset in adulthood
Gene: TPP1EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 18 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In Oxford and Sheffield panels. Battens CLN2 gene. 113 DM in HGMD. Mutations in TPP1 also rarely cause SCA7 (2 confirmed families on OMIM). Is it better on metabolic panel as a lysosomal storage disease?Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple variants and patients for NCL; looks like the three families required across the two SCAR7 papers plus evidence for pathogenic decrease in enzyme activity in patients. Both phenotypes features cerebellar abnormalities and ataxiaCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuronal ceroid lipofuscinosis, 204500, Autosomal recessive spinocerebellar ataxia 7, 609270
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- 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
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- None
- Panels with this gene
-
- Neuronal ceroid lipofuscinosis type 2
- Retinal disorders
- DDG2P
- Neuronal ceroid lipofuscinosis
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to TPP1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270; Neuronal ceroid lipofuscinosis, 204500 for gene: TPP1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TPP1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to TPP1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipfuscinosis 7 (204500); Autosomal recessive spinocerebellar ataxia 7 (#607998) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TPP1 was added gene: TPP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Neuronal ceroid lipfuscinosis 7 (204500); Autosomal recessive spinocerebellar ataxia 7 (#607998)