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Date	Panel	Item	Activity
Filter activities 28 actions
01 Feb 2023	Hereditary spastic paraplegia, childhood onset v3.9	TFG	Mafalda Gomes Tag Q3_21_MOI was removed from gene: TFG.
01 Feb 2023	Hereditary spastic paraplegia, childhood onset v3.9	TFG	Mafalda Gomes commented on gene: TFG
01 Feb 2023	Hereditary spastic paraplegia, childhood onset 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
23 Aug 2021	Hereditary spastic paraplegia, childhood onset 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
23 Aug 2021	Hereditary spastic paraplegia, childhood onset v2.69	TFG	Arina Puzriakova Publications for gene: TFG were set to Beetz et al. (2013); 23479643; 27492651; 27601211; 28124177
23 Aug 2021	Hereditary spastic paraplegia, childhood onset 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.
23 Aug 2021	Hereditary spastic paraplegia, childhood onset 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
23 Aug 2021	Hereditary spastic paraplegia, childhood onset v2.67	TFG	Arina Puzriakova Tag Q3_21_MOI tag was added to gene: TFG.
21 May 2019	Hereditary spastic paraplegia, childhood onset 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.
21 May 2019	Hereditary spastic paraplegia, childhood onset 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)
13 May 2019	Hereditary spastic paraplegia, childhood onset v1.164	TFG	Louise Daugherty Deleted their comment
13 May 2019	Hereditary spastic paraplegia, childhood onset v1.102	TFG	Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013); 23479643; 27492651; 27601211
13 May 2019	Hereditary spastic paraplegia, childhood onset v1.75	TFG	Louise Daugherty Source Yorkshire and North East GLH was added to TFG.
10 May 2019	Hereditary spastic paraplegia, childhood onset 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
09 May 2019	Hereditary spastic paraplegia, childhood onset 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.
02 May 2019	Hereditary spastic paraplegia, childhood onset v1.70	TFG	Louise Daugherty Classified gene: TFG as Amber List (moderate evidence)
02 May 2019	Hereditary spastic paraplegia, childhood onset v1.70	TFG	Louise Daugherty Gene: tfg has been classified as Amber List (Moderate Evidence).
02 May 2019	Hereditary spastic paraplegia, childhood onset v1.69	TFG	Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013)
02 May 2019	Hereditary spastic paraplegia, childhood onset 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
28 Apr 2019	Hereditary spastic paraplegia, childhood onset v1.48	TFG	Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
28 Apr 2019	Hereditary spastic paraplegia, childhood onset 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
28 Apr 2019	Hereditary spastic paraplegia, childhood onset 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
28 Apr 2019	Hereditary spastic paraplegia, childhood onset v1.33	TFG	Louise Daugherty Classified gene: TFG as Green List (high evidence)
28 Apr 2019	Hereditary spastic paraplegia, childhood onset v1.33	TFG	Louise Daugherty Gene: tfg has been classified as Green List (High Evidence).
28 Apr 2019	Hereditary spastic paraplegia, childhood onset 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
28 Apr 2019	Hereditary spastic paraplegia, childhood onset v1.5	TFG	Louise Daugherty Source NHS GMS was added to TFG.
28 Apr 2019	Hereditary spastic paraplegia, childhood onset v1.4	TFG	Louise Daugherty Source London North GLH was added to TFG.
19 Dec 2018	Hereditary spastic paraplegia, childhood onset 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)