Intellectual disability
Gene: TFG

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

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Biallelic TFG variants have been associated with Spastic paraplegia 57, autosomal recessive (OMIM:615658). Five biallelic TFG variants have been associated with OMIM:615658 in nine families from various ethnicities (PMID: 23479643; 27601211; 27492651; 28124177; 29971521; 30467354; 33767317). A range of phenotypic features were reported (table 2 in PMID: 33767317), with spasticity apparent in 8/8 families examined and intellectual disability in 5/9 families.
Created: 26 Mar 2025, 6:02 p.m. | Last Modified: 26 Mar 2025, 6:02 p.m.

Panel Version: 8.219

Comment on publications: PMID: 33767317 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 26 Mar 2025, 5:24 p.m. | Last Modified: 26 Mar 2025, 5:24 p.m.

Panel Version: 8.217

Created: 26 Mar 2025, 5:24 p.m.
Last Modified: 26 Mar 2025, 5:24 p.m.
Panel version: 8.219

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Red rating: spastic paraplegia and muscle weakness are primary phenotypes.
Created: 31 Oct 2017, 9:24 a.m.

Created: 31 Oct 2017, 9:24 a.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.4

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:41 p.m.

Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; manju_list; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

omim.org
Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 11:16 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 2:10 p.m.

Created: 20 Jul 2017, 2:10 p.m.

Panel version: 1.243

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Spastic paraplegia 57, autosomal recessive, OMIM:615658

Tags

Q1_25_ promote_green

OMIM

602498

Clinvar variants

Variants in TFG

Penetrance

Complete

Publications

Panels with this gene