Hereditary neuropathy or pain disorder
Gene: TFGEnsemblGeneIds (GRCh38): ENSG00000114354
EnsemblGeneIds (GRCh37): ENSG00000114354
OMIM: 602498, Gene2Phenotype
TFG is in 8 panels
8 reviews
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:16 a.m. | Last Modified: 1 Feb 2023, 10:16 a.m.
Panel Version: 2.18
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: MOI should be assessed at the next GMS panel review. If the decision is made to include genes on this panel that are associated with neuropathy as part of a more complex phenotype, rather than isolated neuropathy, the MOI should be updated from 'monoallelic' only to 'both mono- and biallelic' .
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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, 10:39 a.m. | Last Modified: 23 Aug 2021, 10:39 a.m.
Panel Version: 1.52
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 5 May 2016, 2:47 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Expert list
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- Phenotypes
-
- Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484
- Spastic paraplegia 57, autosomal recessive, OMIM:615658
- OMIM
- 602498
- Clinvar variants
- Variants in TFG
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Mafalda Gomes (Genomics England Curator)Tag Q3_21_MOI was removed from gene: TFG. Tag Q3_21_expert_review was removed from gene: TFG.
Set mode of inheritance
Mafalda Gomes (Genomics England Curator)Mode of inheritance for gene TFG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TFG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TFG were set to
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_MOI tag was added to gene: TFG. Tag Q3_21_expert_review tag was added to gene: TFG.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TFG were changed from Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, proximal type, 604484 to Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484; Spastic paraplegia 57, autosomal recessive, OMIM:615658
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TFG was added gene: TFG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type; Chondrosarcoma, extraskeletal myxoid, 612237; Hereditary motor and sensory neuropathy, proximal type, 604484