Myeloencephalopathy, progressive degenerative, PNPLA8-related
Phenotype Details
- Phene ID
- 27
- Name
- Myeloencephalopathy, progressive degenerative, PNPLA8-related
- Phene Name
- Weaver syndrome; Haplotype BHW; bovine degenerative progressive myeloencephalopathy
- OMIA ID
- 827
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 765 | Progressive degenerative myeloencephalopathy (Weaver syndrome) | 388274637 | 1 | 4 | NC_037331.1:g.49600585C>T | XM_005205444.4:c.1703G>A | XP_005205501.2:p.(S568N) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
| Carora, Venezuela (Bolivarian Republic of) (Cattle) | 919 | 9913 | http://purl.obolibrary.org/obo/VBO_0005370 |
Molecular Genetics
Kunz et al. (2016) reported a likely causal mutation as "a missense mutation (p.S568N, c.G1703A; [Chr4: 49,878,773 bp, rs800397662]) in the PNPLA8 gene that encodes patatin-like phospholipase domain containing 8".
Genetic Test
Using the powerful tool of imputation from 50K SNP genotypes, McClure et al. (2013) reported that <7,500 Brown Swiss have now been characterised as carriers or non-carriers of the haplotype described in the Mapping section (above). Identification of a likely causal mutation by Kunz et al. (2016) (see Molecular basis section) has the potential to replace the haplotype test with a specific SNP test.