Fanconi syndrome
Phenotype Details
- Phene ID
- 2149
- Name
- Fanconi syndrome
- Phene Name
- Fleckvieh Haplotype 2
- OMIA ID
- 366
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 626 | Fanconi syndrome | 388161925 | 1 | 1 | NC_037328.1:g.96472797_96472804delinsCATC | NM_001103222.1:c.772_779delinsCATC | NP_001096692.1:p.(L258fs*16) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Original Swiss Brown (Cattle) | 1500 | 9913 | http://purl.obolibrary.org/obo/VBO_0000328 |
| Swiss Fleckvieh (Cattle) | 1502 | 9913 | http://purl.obolibrary.org/obo/VBO_0000393 |
Molecular Genetics
Burgstaller et al. (2016) have provided strong evidence that the FH2 frameshift mutation (see OMIA 001958-9913), namely c.771_778delTTGAAAAGinsCATC (rs379675307) in SLC2A2, is actually causative of Fanconi-Bickel syndrome in Fleckvieh cattle. Joller et al. (2018) reported the same likely causal variant in a Swiss Braunvieh calf.