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Hereditary neuropathy
Gene: TFG

TFG (TRK-fused gene)
EnsemblGeneIds (GRCh38): ENSG00000114354
EnsemblGeneIds (GRCh37): ENSG00000114354
OMIM: 602498, Gene2Phenotype
TFG is in 8 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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

Created: 23 Aug 2021, 10:23 a.m.
Last Modified: 23 Aug 2021, 10:23 a.m.
Panel version: 1.403

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 29 Apr 2019, 9:26 a.m.

Panel version: 1.80

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

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.

Created: 5 May 2016, 2:47 p.m.

Panel version: 0.128

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
London North GLH
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list

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

Complete

Publications

Panels with this gene

History Filter Activity

23 Aug 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TFG were set to

23 Aug 2021, Gel status: 3

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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TFG.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to TFG. Rating Changed from Green List (high evidence) to Green List (high evidence)

5 May 2016, Gel status: 4