Hereditary neuropathy
Gene: TFGComment on mode of inheritance: Updated MOI from 'monoallelic' only to 'both mono- and biallelic'
Monoallelic variants are associated with an adult-onset motor and sensory neuropathy (MIM# 604484), a disorder that is relevant to this panel. Biallelic variants cause a HSP (MIM# 615658) which also has been shown to involve peripheral neuropathy in complex cases. Both phenotypes have a sufficient number of unrelated cases (>3) reported to warrant a Green rating (updated publications list).Created: 23 Aug 2021, 10:23 a.m. | Last Modified: 23 Aug 2021, 10:23 a.m.
Panel Version: 1.403
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.Created: 9 May 2019, 5 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 5 May 2016, 2:47 p.m.
Publications for gene: TFG were set to
Mode of inheritance for gene: TFG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, proximal type, 604484; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, Okinawa type to Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484; Spastic paraplegia 57, autosomal recessive, OMIM:615658
Source NHS GMS was added to TFG.
Source London North GLH was added to TFG. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for TFG were set to Hereditary motor and sensory neuropathy, proximal type, 604484; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, Okinawa type
Mode of inheritance for TFG was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
TFG was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
TFG was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen