Immunodeficiency, IL17RA-related
Phenotype Details
- Phene ID
- 4342
- Name
- Immunodeficiency, IL17RA-related
- Phene Name
- N/A
- OMIA ID
- 2271
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2020
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1202 | Immunodeficiency, IL17Ra-related | 388272037 | 1 | 5 | NC_037332.1:g.108813252del | XM_015460734.2:c.180del | XP_015316220.2:p.(C61Afs*62) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Inheritance
Häfliger et al. (2020): " Pedigree analysis indicated autosomal recessive inheritance. . . . Genotyping of the affected cattle family [with the IL17RA c.180delC variant] confirmed recessive inheritance"
Molecular Genetics
Häfliger et al. (2020): "Variant calling and filtering against the 1000 Bull Genomes variant catalogue resulted in the detection of a single homozygous protein-changing variant exclusively present in both sequenced genomes. This single-nucleotide deletion in exon 3 of IL17RA on bovine chromosome 5 was predicted to have a deleterious impact on the encoded protein due to a frameshift leading to a truncated gene product."