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  3. TGDS
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Hand and foot malformations

Gene: TGDS

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hyperphalangy and clinodactyly are prominent features of the condition.
Created: 23 Sep 2021, 1:48 a.m. | Last Modified: 23 Sep 2021, 1:48 a.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Catel-Manzke syndrome MIM#616145

Publications

Created: 23 Sep 2021, 1:48 a.m.
Last Modified: 23 Sep 2021, 1:48 a.m.
Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Catel-Manzke syndrome 616145
OMIM
616146
Clinvar variants
Variants in TGDS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tgds has been classified as Green List (High Evidence).

23 Sep 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TGDS were set to

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tgds has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TGDS was added gene: TGDS was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGDS were set to Catel-Manzke syndrome 616145