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Childhood onset hereditary spastic paraplegia v3.9 TFG Mafalda Gomes Tag Q3_21_MOI was removed from gene: TFG.
Childhood onset hereditary spastic paraplegia v3.9 TFG Mafalda Gomes commented on gene: TFG
Childhood onset hereditary spastic paraplegia v3.8 TFG Mafalda Gomes Mode of inheritance for gene TFG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.70 TFG Arina Puzriakova Phenotypes for gene: TFG were changed from ?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD to Spastic paraplegia 57, autosomal recessive, OMIM:615658
Childhood onset hereditary spastic paraplegia v2.69 TFG Arina Puzriakova Publications for gene: TFG were set to Beetz et al. (2013); 23479643; 27492651; 27601211; 28124177
Childhood onset hereditary spastic paraplegia v2.68 TFG Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update.

Monoallelic variants are associated with an adult onset neuropathy (MIM# 604484), a disorder that does not include spasticity and is therefore not relevant to this panel.
Childhood onset hereditary spastic paraplegia v2.68 TFG Arina Puzriakova Mode of inheritance for gene: TFG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.67 TFG Arina Puzriakova Tag Q3_21_MOI tag was added to gene: TFG.
Childhood onset hereditary spastic paraplegia v1.166 TFG Louise Daugherty commented on gene: TFG: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.165 TFG Louise Daugherty Source Expert Review Green was added to TFG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.164 TFG Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.102 TFG Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013); 23479643; 27492651; 27601211
Childhood onset hereditary spastic paraplegia v1.75 TFG Louise Daugherty Source Yorkshire and North East GLH was added to TFG.
Childhood onset hereditary spastic paraplegia v1.74 TFG Nick Beauchamp reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 23479643, 27601211, 28124177, 27492651; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 TFG Louise Daugherty commented on gene: TFG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.70 TFG Louise Daugherty Classified gene: TFG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.70 TFG Louise Daugherty Gene: tfg has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.69 TFG Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013)
Childhood onset hereditary spastic paraplegia v1.68 TFG Louise Daugherty commented on gene: TFG: Amber rating on Hereditary spastic paraplegia panel 1.198

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
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018

Comment when marking as ready: Single Indian family currently described in association with HSP
emma baple (Genomics England Curator), 10 May 2016
Childhood onset hereditary spastic paraplegia v1.48 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.35 TFG Louise Daugherty Phenotypes for gene: TFG were changed from to ?Spastic paraplegia 57, autosomal recessive, 615658, AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD
Childhood onset hereditary spastic paraplegia v1.34 TFG Louise Daugherty Mode of inheritance for gene: TFG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.33 TFG Louise Daugherty Classified gene: TFG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.33 TFG Louise Daugherty Gene: tfg has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.6 TFG James Polke reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive, 615658, AR, Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 TFG Louise Daugherty Source NHS GMS was added to TFG.
Childhood onset hereditary spastic paraplegia v1.4 TFG Louise Daugherty Source London North GLH was added to TFG.
Childhood onset hereditary spastic paraplegia v0.6 TFG Sarah Leigh gene: TFG was added
gene: TFG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFG were set to Beetz et al. (2013)