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Intellectual disability

Gene: TGDS

Red List (low evidence)

TGDS (TDP-glucose 4,6-dehydratase)
EnsemblGeneIds (GRCh38): ENSG00000088451
EnsemblGeneIds (GRCh37): ENSG00000088451
OMIM: 616146, Gene2Phenotype
TGDS is in 7 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Catel-Manzke syndrome is typically not associated with ID.
Created: 21 Jun 2018, 12:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Changed from Amber to Red until more info to support gene-disease association to ID. Rated red due to current information in the literature and external expert review.
Created: 18 Jul 2018, 11:23 a.m.
Although a confirmed G2P gene for Catel-Manzke syndrome, this disorder is not associated to ID. Gene source was from BRIDGE_SPEED_NEURO_20170705 gene list (NIHRRD-BR) but after reviewing gene based on recent external review, I agree this gene is not relevant for this panel.
Created: 18 Jul 2018, 11:02 a.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 4:40 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Catel-Manzke syndrome, 616145
OMIM
616146
Clinvar variants
Variants in TGDS
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TGDS.

18 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tgds has been classified as Red List (Low Evidence).

18 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TGDS were set to Catel-Manzke syndrome, 616145

18 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tgds has been classified as Red List (Low Evidence).

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

TGDS was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

TGDS was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene