Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase: genes and variants
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase is linked to 1 analyzed protein (GALT). 65 DNA variants are known to cause it; 94 more are uncertain, and 9 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GALT: Galactose-1-phosphate uridylyltransferase
It converts galactose-1-phosphate and UDP-glucose into glucose-1-phosphate and UDP-galactose in the Leloir pathway. Biallelic deficiency causes classic galactosemia, in which dietary galactose can lead to neonatal liver failure, sepsis risk, cataracts, and long-term complications.
65 disease-causing and 94 uncertain variants in GALT are linked to Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase.
Known disease-causing variants in Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GALT R259Q | 259 | Disease-causing (★★) | |
| GALT R259W | 259 | Disease-causing (★★) | |
| GALT M298I | 298 | Disease-causing (★★) | |
| GALT H186N | 186 | Disease-causing (★★) | |
| GALT R333Q | 333 | Disease-causing (★★) | |
| GALT R333W | 333 | Disease-causing (★★) | |
| GALT R333G | 333 | Disease-causing (★★) | |
| GALT M1L | 1 | Disease-causing (★★) | |
| GALT M1T | 1 | Disease-causing (★★) | |
| GALT H29R | 29 | Disease-causing (★★) | |
| GALT R51Q | 51 | Disease-causing (★★) | |
| GALT N97D | 97 | Disease-causing (★★) | |
| GALT H132Y | 132 | Disease-causing (★★) | |
| GALT V168M | 168 | Disease-causing (★★) | |
| GALT R231G | 231 | Disease-causing (★★) | |
| GALT E271D | 271 | Disease-causing (★★) | |
| GALT Y286C | 286 | Disease-causing (★★) | |
| GALT M298V | 298 | Disease-causing (★★) | |
| GALT H319Q | 319 | Disease-causing (★★) | |
| GALT P325L | 325 | Disease-causing (★★) | |
| GALT E352Q | 352 | Disease-causing (★★) | |
| GALT S45P | 45 | Disease-causing (★★) | |
| GALT R67H | 67 | Disease-causing (★★) | |
| GALT S143L | 143 | Disease-causing (★★) | |
| GALT D197G | 197 | Disease-causing (★★) | |
| GALT R258C | 258 | Disease-causing (★★) | |
| GALT R328C | 328 | Disease-causing (★★) | |
| GALT V42A | 42 | Disease-causing (★★) | |
| GALT R272C | 272 | Disease-causing (★★) | |
| GALT E363K | 363 | Disease-causing (★★) | |
| GALT S143W | 143 | Disease-causing (★★) | |
| GALT Q206R | 206 | Disease-causing (★★) | |
| GALT Q344K | 344 | Disease-causing (★★) | |
| GALT P87R | 87 | Disease-causing (★★) | |
| GALT V128I | 128 | Disease-causing (★★) | |
| GALT G299D | 299 | Disease-causing (★) | |
| GALT G299S | 299 | Disease-causing (★) | |
| GALT H186Q | 186 | Disease-causing (★) | |
| GALT M1R | 1 | Disease-causing (★) | |
| GALT W167C | 167 | Disease-causing (★) | |
| GALT Q169H | 169 | Disease-causing (★) | |
| GALT H186R | 186 | Disease-causing (★) | |
| GALT P295S | 295 | Disease-causing (★) | |
| GALT R48S | 48 | Disease-causing (★) | |
| GALT N97I | 97 | Disease-causing (★) | |
| GALT P196A | 196 | Disease-causing (★) | |
| GALT P304A | 304 | Disease-causing (★) | |
| GALT P304S | 304 | Disease-causing (★) | |
| GALT T350S | 350 | Disease-causing (★) | |
| GALT S135A | 135 | Disease-causing (★) | |
| GALT I147V | 147 | Disease-causing (★) | |
| GALT M177T | 177 | Disease-causing (★) | |
| GALT P183T | 183 | Disease-causing (★) | |
| GALT Y209D | 209 | Disease-causing (★) | |
| GALT A320V | 320 | Disease-causing (★) | |
| GALT V157I | 157 | Disease-causing (★) | |
| GALT E202K | 202 | Disease-causing (★) | |
| GALT W239C | 239 | Disease-causing (★) | |
| GALT P324L | 324 | Disease-causing (★) | |
| GALT S222N | 222 | Disease-causing (★) |
Showing 60 of 65.
Uncertain variants in Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| GALT R48C | 48 | Conflicting reports (★) | +7: 3 other pathogenic changes within 3 positions; R48S at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.956 | |
| GALT T350I | 350 | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; T350S at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.969 | |
| GALT T350N | 350 | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; T350S at the same position is pathogenic; seen in 1.4e-06 of gnomAD DNA copies; REVEL 0.925 | |
| GALT E352G | 352 | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; E352Q at the same position is pathogenic; seen in 1.4e-06 of gnomAD DNA copies; REVEL 0.988 | |
| GALT R272L | 272 | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; R272C at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.847 | |
| GALT P196L | 196 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; P196A at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.81 | |
| GALT A320T | 320 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; A320V at the same position is pathogenic; REVEL 0.980 | |
| GALT W167G | 167 | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; W167C at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.72 | |
| GALT R258H | 258 | Uncertain (★★) | +6: 3 other pathogenic changes within 3 positions; R258C at the same position is pathogenic; REVEL 0.878 |
Same protein, different disease
- Galactosemia is also caused by GALT variants; they fall in the same places as the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase variants (36 disease-causing).
Diseases related to Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Galactosemia, also linked to GALT
- Fetal anomalies with a likely genetic cause, also linked to GALT
Frequently asked questions
Which genes are linked to Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase?
In CATVariant, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase is linked to 1 analyzed protein: GALT (Galactose-1-phosphate uridylyltransferase).
How many genetic variants are linked to Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase?
160 variants: 65 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 94 are of uncertain significance or have conflicting reports.
Which uncertain variants in Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase look disease-causing?
9 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example GALT R48C, GALT T350I, GALT T350N, GALT E352G and GALT R272L. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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