Hereditary spastic paraplegia

Gene: TFG

Amber List (moderate evidence)

TFG (TRK-fused gene)
EnsemblGeneIds (GRCh38): ENSG00000114354
EnsemblGeneIds (GRCh37): ENSG00000114354
OMIM: 602498, Gene2Phenotype
TFG is in 7 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 2019
Created: 3 May 2019, 9:12 a.m.

Chris Buxton (North Bristol NHS Trust)

Green List (high evidence)

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
Created: 27 Nov 2018, 12:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic paraplegia; optic atrophy; neuropathy

Publications

emma baple (Genomics England Curator)

Comment when marking as ready: Single Indian family currently described in association with HSP
Created: 10 May 2016, 2:13 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
OMIM
602498
Clinvar variants
Variants in TFG
Penetrance
Complete
Publications
  • Beetz et al. (2013)
Panels with this gene

History Filter Activity

2 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tfg has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TFG was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TFG was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TFG was added to Hereditary spastic paraplegiapanel. Sources: Expert list