Galactosemia(Galactose-1-phosphate uridyl transferase deficiency)
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | GALT/2592 | galactose-1-phosphate uridylyltransferase | 9p13.3 | Chr9, NC_000009.12 (34646675..34651035) |
4361 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GALM/130589 | galactose mutarotase | 2p22.1 | Chr2, NC_000002.12 (38666114..38734765) |
68652 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |