Hereditary spastic paraplegia - childhood onsetGene: TFG
Childhood onset, at least four families. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.
Amber rating on Hereditary spastic paraplegia panel 1.198
Beetz (2013, 23479643) Initial report. Exome study, 2 sibs with early-onset spastic paraplegia, optic atrophy, and neuropathy, with hom c.316C>T (p.R106C). In vitro defect shown in self-assembly. Harlalka (2016, 27492651) also described a c.317G>A (p.R106H) homozygous family, and proposed a founder origin for the c.316C>T variant, as well as a c.316_317 hotspot. further mt invitro studies supportive evidence. Elsayed (2016, 27601211) implicated TGF in one family; homozygous c.64C>T (p.(Arg22Trp) with HSP In Sheffield diagnostic HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Green review.
Comment when marking as ready: Single Indian family currently described in association with HSP
emma baple (Genomics England Curator), 10 May 2016
Created: 2 May 2019, 4:56 p.m.
may have optic atrophy and peripheral neuropathy, 2 sibs from 1 family published with AR SPG 57. affected members of 4 Japanese families & 16 affected members of a large multigenerational Taiwanese family with Okinawa hereditary motor and sensory neuropathy; Vicotria: Green. In sheffield HSP panel
Created: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD
Source Expert Review Green was added to TFG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: TFG were set to Beetz et al. (2013); 23479643; 27492651; 27601211
Source Yorkshire and North East GLH was added to TFG.
Gene: tfg has been classified as Amber List (Moderate Evidence).
Publications for gene: TFG were set to Beetz et al. (2013)
Phenotypes for gene: TFG were changed from to ?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD
Mode of inheritance for gene: TFG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: tfg has been classified as Green List (High Evidence).
Source NHS GMS was added to TFG.
Source London North GLH was added to TFG.
Rebecca Foulger: Comment on list classification
gene: TFG was added gene: TFG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFG were set to Beetz et al. (2013)