Perinatal mortality syndrome, GCK-related
- Phene ID
- 5023
- Name
- Perinatal mortality syndrome, GCK-related
- Phene Name
- N/A
- OMIA ID
- 2579
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2022
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1494 | Perinatal mortality syndrome, GCK-related | 388308931 | 1 | 4 | g.77173487A>T | N/A | N/A |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Irish Moiled (Cattle) | 1257 | 9913 | http://purl.obolibrary.org/obo/VBO_0000246 |
Pollott et al. (2022): "An initial analysis was undertaken which suggested that there was likely a genetic basis to the disease . . . , and since it was fatal, it could only be inherited as a recessive condition."
Pollott et al. (2022): "Using whole genome sequencing of only three cases and six carriers, the site of a novel variant causing perinatal mortality in Irish moiled calves was located. Four methods were used to interrogate the variant call format (VCF) data file of these nine animals, they are genotype criteria (GCR), autozygosity-by-difference (ABD), variant prediction scoring, and registered SNP information. From more than nine million variants in the VCF file, only one site was identified by all four methods (Chr4: g.77173487A>T (ARS-UCD1.2 (GCF_002263795.1))." This splice-acceptor variant "was verified on an independent sample of animals from the breed using genotyping by polymerase chain reaction at the candidate site and autozygosity-by-difference using SNP-chips. Both methods confirmed the candidate site."