Gangliosidosis, GM2, type I (B variant)
Phenotype Details
- Phene ID
- 6007
- Name
- Gangliosidosis, GM2, type I (B variant)
- Phene Name
- N/A
- OMIA ID
- 1461
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2025
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1825 | Gangliosidosis, GM2 | 398299035 | 1 | 10 | NC_037337.1:g.19269480_19269481delinsGGAGT | NM_001075164.2: c.834_835delinsACTCC) | NP_001068632.1:p.(Y278*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
Molecular Genetics
Eager et al. (2025): "Whole-genome sequencing of an affected calf identified a homozygous frameshift variant in the HEXA gene (NC_037337.1:g.19269480_19269481delinsGGAGT, NM_001075164.2: c.(834_835delinsACTCC)), absent from 18 control genomes and 1842 individuals in the 1000 Bull Genomes Project. The variant was confirmed in homozygous form in all four affected animals by Sanger sequencing and meets multiple criteria for pathogenicity."