Hereditary spastic paraplegia
Gene: TFG
In Sheffield diagnostic panel and green on GMS panels. Upgrade on 100K panelCreated: 7 Jan 2020, 11:35 a.m. | Last Modified: 7 Jan 2020, 11:35 a.m.
Panel Version: 1.210
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia - childhood onset; Intellectual disability; Hereditary spastic paraplegia - adult onset
Publications
Comment on list classification: Upgraded gene from Amber to Green due to feedback from Genomics England clinical team, due to re-analysing a few cases for diagnostic discovery there is enough evidence to support a Green rating on this panel.Created: 10 Jan 2020, 5:03 p.m. | Last Modified: 10 Jan 2020, 5:03 p.m.
Panel Version: 1.213
Comment on publications: added publications to support upgrading from Amber to Green.Created: 10 Jan 2020, 5:02 p.m. | Last Modified: 10 Jan 2020, 5:02 p.m.
Panel Version: 1.211
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, 9:12 a.m.
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 panelCreated: 27 Nov 2018, 12:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic paraplegia; optic atrophy; neuropathy
Publications
Comment when marking as ready: Single Indian family currently described in association with HSPCreated: 10 May 2016, 2:13 p.m.
Phenotypes for gene: TFG were changed from Hereditary spastic paraplegia - childhood onset; Intellectual disability; Hereditary spastic paraplegia - adult onset; neuropathy to Spastic paraplegia 57, autosomal recessive, OMIM:615658
Publications for gene: TFG were set to 23479643; 27601211; 28124177; 27492651
Gene: tfg has been classified as Green List (High Evidence).
Phenotypes for gene: TFG were changed from to Hereditary spastic paraplegia - childhood onset; Intellectual disability; Hereditary spastic paraplegia - adult onset; neuropathy
Publications for gene: TFG were set to Beetz et al. (2013)
Gene: tfg has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene TFG was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene TFG was changed to BIALLELIC, autosomal or pseudoautosomal
TFG was added to Hereditary spastic paraplegiapanel. Sources: Expert list