Hereditary spastic paraplegia
Gene: TECPR2
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019Created: 3 May 2019, 9:11 a.m.
Oz-Levi (2012, 23176824 ), ?founder fs deletion in Jewish Bukharian families with HSP-related phenotype.
Some functional studies supporting an association.
Zhu (2015, 25590979), different homozygous fs deletion. Pt had overlapping manifestations with SPG49. No functional studies.
Currently included in Sheffield's HSP panelCreated: 27 Nov 2018, 11:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
complex HSP/dysautonomia
Publications
PMID:26542466 (2016) report 3 additional patients from unrelated non-Bukharian families, harboring two novel variants (c.1319delT, c.C566T) in TECPR2, suggesting that variants are not restricted to Bukharian origin.Created: 31 Oct 2017, 11:56 a.m.
Comment when marking as ready: limited evidence founder Jewish mutationCreated: 10 May 2016, 2:09 p.m.
Publications for TECPR2 were set to 23176824; 26542466
Phenotypes for TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene TECPR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TECPR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TECPR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TECPR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TECPR2 was changed to BIALLELIC, autosomal or pseudoautosomal
TECPR2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list
TECPR2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list