Hereditary spastic paraplegia - adult onset

Gene: TFG

Green List (high evidence)

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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Chris Buxton (North Bristol NHS Trust)

Green List (high evidence)

Will include in local HSP panel 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 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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: 25 Apr 2019, 1:22 p.m.

Phenotypes
?Spastic paraplegia 57, autosomal recessive 615658,AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • South West GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD
  • ?Spastic paraplegia 57, autosomal recessive 615658,AR
OMIM
602498
Clinvar variants
Variants in TFG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TFG were set to Beetz (2013) 23479643

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TFG.

27 Apr 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TFG was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TFG were changed from to Beetz (2013) 23479643

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to TFG.

25 Apr 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TFG. Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; ?Spastic paraplegia 57, autosomal recessive 615658,AR for gene: TFG Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TFG.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TFG was added gene: TFG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: TFG was set to