Ichthyosis, FA2H-related
Phenotype Details
- Phene ID
- 4742
- Name
- Ichthyosis, FA2H-related
- Phene Name
- Ichthyosis congenita (IC)
- OMIA ID
- 2450
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2021
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1360 | Ichthyosis congenita | 388270362 | 1 | 18 | g.2205625_2205626insG | c.9dupC | p.(A4Rfs*142) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Chianina (Cattle) | 211 | 9913 | http://purl.obolibrary.org/obo/VBO_0000178 |
Inheritance
Jacinto et al. (2021): "pedigree records indicated a monogenic recessive trait."
Molecular Genetics
Jacinto et al. (2021): "Homozygosity mapping and whole-genome sequencing allowed the identification of a homozygous frameshift 1 bp insertion in the FA2H gene (c.9dupC; p.Ala4ArgfsTer142) located in a 1.92 Mb shared identical-by-descent region on chromosome 18 present in all cases, while the parents were heterozygous as expected for obligate carriers."