Frontonasal dysplasia, ZIC2-related
Phenotype Details
- Phene ID
- 4447
- Name
- Frontonasal dysplasia, ZIC2-related
- Phene Name
- N/A
- OMIA ID
- 2307
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2021
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1283 | Frontonasal dysplasia | 388269402 | 1 | 12 | g.76742067del | c.1596del | p.(S453*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Limousin (Cattle) | 58 | 9913 | http://purl.obolibrary.org/obo/VBO_0000274 |
Molecular Genetics
Braun et al. (2021): "Filtering whole genome sequencing data revealed a private frameshift variant within the candidate gene ZIC2 in the affected calf. . . . A 1-bp deletion (g.80722845TC>T; ARS-UCD1.2:g.76742066TC>T) in exon 4 of the candidate gene ZIC2 . . . was heterozygous in the affected calf and homozygous wild type in both parents and all other Limousin herdmates and private controls. . . . The origin of this variant is most likely due to a de novo mutation in the germline of one parent or during very early embryonic development."