TGDS
Chr 13ARTDP-glucose 4,6-dehydratase
Also known as: CATMANS, SDR2E1, TDPGD
The protein is UTP-glucose 4,6-dehydratase, which converts UDP-glucose into UDP-4-keto-6-deoxyglucose and is required for glycosaminoglycan biosynthesis and skeletal development. Mutations cause Catel-Manzke syndrome, characterized by Pierre Robin sequence (undersized jaw, backwards tongue displacement causing airway obstruction, and often cleft palate) and radial deviation of the index finger due to an accessory bone. This condition follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
231 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 3 | 80 | 0 | 83 |
Likely Pathogenic | 2 | 5 | 0 | 0 | 7 |
VUS | 2 | 51 | 11 | 1 | 65 |
Likely Benign | 0 | 1 | 13 | 17 | 31 |
Benign | 0 | 2 | 23 | 1 | 26 |
Conflicting | — | 2 | |||
| Total | 4 | 62 | 127 | 19 | 214 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TGDS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools