Cataract, recessive, CPAMD8-related
Phenotype Details
- Phene ID
- 4034
- Name
- Cataract, recessive, CPAMD8-related
- Phene Name
- Morgagnian cataract
- OMIA ID
- 2111
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2017
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 358 | Cataract, recessive, CPAMD8-related | 389079818 | 1 | 7 | NC_037334.1:g.6073556C>T | XM_015471929.2:c.220C>T | XP_015327415.2:p.(Q74*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein (red and white) (Cattle) | 122 | 9913 | http://purl.obolibrary.org/obo/VBO_0000238 |
Inheritance
Hollmann et al. (2017): "an autosomal recessive inheritance of the cataract phenotype can be inferred from pedigree analyses".
Molecular Genetics
Hollmann et al. (2017): "Whole genome re-sequencing of one case and four relatives showed a nonsense mutation (g.5995966C>T) in the PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8) gene leading to a premature stop codon (CPAMD8 p.Gln74*)".