Hereditary spastic paraplegia

Gene: TFG

Green List (high evidence)

TFG (TRK-fused gene)
EnsemblGeneIds (GRCh38): ENSG00000114354
EnsemblGeneIds (GRCh37): ENSG00000114354
OMIM: 602498, Gene2Phenotype
TFG is in 8 panels

4 reviews

Zerin Hyder (Genomics England)

Green List (high evidence)

In Sheffield diagnostic panel and green on GMS panels. Upgrade on 100K panel
Created: 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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 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 list
Phenotypes
  • Hereditary spastic paraplegia - childhood onset
  • Intellectual disability
  • Hereditary spastic paraplegia - adult onset
  • neuropathy
OMIM
602498
Clinvar variants
Variants in TFG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tfg has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TFG were changed from to Hereditary spastic paraplegia - childhood onset; Intellectual disability; Hereditary spastic paraplegia - adult onset; neuropathy

10 Jan 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TFG were set to Beetz et al. (2013)

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