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Optic neuropathy

Gene: TFG

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 1:02 p.m. | Last Modified: 30 Jan 2023, 1:02 p.m.
Panel Version: 3.7
Created: 30 Jan 2023, 1:02 p.m.
Last Modified: 30 Jan 2023, 1:02 p.m.
Panel version: 3.7

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 23 Aug 2021, 11:37 a.m. | Last Modified: 23 Aug 2021, 11:37 a.m.
Panel Version: 2.48
Biallelic variants cause a HSP (MIM# 615658) which has been shown to involve early-onset optic atrophy in complex cases. At least 4 unrelated families reported with optic atrophy and variants in this gene (PMIDs: 23479643; 27492651; 29971521; 30467354).

Note that monoallelic variants are associated with different phenotype comprising adult-onset neuropathy (MIM# 604484)
Sources: Literature
Created: 23 Aug 2021, 11:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 57, autosomal recessive, OMIM:615658

Publications

Created: 23 Aug 2021, 11:36 a.m.

Panel version: 2.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 57, autosomal recessive, OMIM:615658
OMIM
602498
Clinvar variants
Variants in TFG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_21_rating was removed from gene: TFG.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TFG. Source NHS GMS was added to TFG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tfg has been classified as Amber List (Moderate Evidence).

23 Aug 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: TFG was added gene: TFG was added to Optic neuropathy. Sources: Literature Q3_21_rating tags were added to gene: TFG. Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFG were set to 23479643; 27492651; 29971521; 30467354 Phenotypes for gene: TFG were set to Spastic paraplegia 57, autosomal recessive, OMIM:615658 Review for gene: TFG was set to GREEN