Adult onset hereditary spastic paraplegia
Gene: TECPR2
Childhood onset, one or two families reported. Suggested in Heimer et al 2016 PMID 26542466 not a form of HSP.Created: 10 May 2019, 10:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Will include in local HSP panel ?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 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 49, autosomal recessive, 615031
Publications
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
delayed motor development, spastic paraparesis, gastroesophageal reflux, and recurrent apneic episodes. affected members of 3 Jewish Bukharian families with autosomal recessive spastic paraplegia-49. In sheffield HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 49, autosomal recessive,615031, AR
Source Expert Review Amber was added to TECPR2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to TECPR2.
Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2 Publications for gene TECPR2 were changed from to 23176824; 26542466
Source South West GLH was added to TECPR2.
Source Expert Review Green was added to TECPR2. Mode of inheritance for gene TECPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 49, autosomal recessive,615031, AR for gene: TECPR2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to TECPR2.
gene: TECPR2 was added gene: TECPR2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: TECPR2 was set to