Genetic epilepsy syndromesGene: TPP1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Associated with AR SCAR7 and AR neuronal ceroid lipofuscinosis. Only 2 variants in trhis gene reported in association with SCAR7. Lots of variants associated with the other phenotype where seizures are a common feaure.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
eroid lipofuscinosis, neuronal, 204500; Spinocerebellar ataxia, 609270
Comment on list classification: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for Ceroid lipofuscinosis, neuronal, 2 204500 . At least 9 variants reported.
Created: 20 Jun 2018, 4:41 p.m.
Comment on phenotypes: Biallelic variants also associated with Spinocerebellar ataxia, autosomal recessive 7 609270
Created: 20 Jun 2018, 4:34 p.m.
"TTPI" was submitted by an expert, which is most likely to be this HGNC-approved symbol.
Created: 1 Jul 2015, 3:17 p.m.
Source Wessex and West Midlands GLH was added to TPP1.
Source NHS GMS was added to TPP1.
Ellen McDonagh: "TTPI" was submitted by an exp
Victorian Clinical Genetics Services was added to TPP1. Panel: Genetic Epilepsy Syndromes
Gene: tpp1 has been classified as Green List (High Evidence).
Publications for gene: TPP1 were set to 9295267; 10665500; 12414822; 17959406
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2 204500
Mode of inheritance for gene: TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
TPP1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
TPP1 was created by Sarah Leigh