Adult onset hereditary spastic paraplegia
Gene: TFGThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Review of literature did not reveal any adult onset cases - childhood onset only.
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 23 Aug 2021, 9:41 a.m. | Last Modified: 23 Aug 2021, 9:41 a.m.
Panel Version: 1.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 57, autosomal recessive, OMIM:615658
Publications
Childhood onset.Created: 22 Sep 2020, 5:27 a.m. | Last Modified: 22 Sep 2020, 5:27 a.m.
Panel Version: 1.7
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
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
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.
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 panelCreated: 25 Apr 2019, 1:22 p.m.
Phenotypes
?Spastic paraplegia 57, autosomal recessive 615658,AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD
Tag Q3_21_phenotype was removed from gene: TFG.
Source Expert Review Amber was added to TFG. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; ?Spastic paraplegia 57, autosomal recessive 615658,AR to Spastic paraplegia 57, autosomal recessive, OMIM:615658
Publications for gene: TFG were set to Beetz (2013); 23479643; 27601211; 28124177; 27492651
Tag Q3_21_phenotype tag was added to gene: TFG.
Publications for gene: TFG were set to Beetz (2013) 23479643
Source Yorkshire and North East GLH was added to TFG.
Mode of inheritance for gene: TFG was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene TFG were changed from to Beetz (2013) 23479643
Source South West GLH was added to TFG.
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)
Source NHS GMS was added to TFG.
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