Hereditary ataxia with onset in adulthood
Gene: TPP1
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.
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.
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
Source London North GMS was added to TPP1.
Added phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270; Neuronal ceroid lipofuscinosis, 204500 for gene: TPP1
Source NHS GMS was added to TPP1.
Source Wessex and West Midlands GLH was added to TPP1.
Checked panel against panel constituents. Ready to promote to version 1.
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
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)