classical Ehlers-Danlos syndrome (cEDS), COL5A2-related
Phenotype Details
- Phene ID
- 4416
- Name
- classical Ehlers-Danlos syndrome (cEDS), COL5A2-related
- Phene Name
- classical Ehlers-Danlos syndrome (cEDS), COL5A2-related; Ehlers-Danlos syndrome, classic type, 2
- OMIA ID
- 2295
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2020
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1263 | Ehlers-Danlos syndrome, classic type, 2 | 388275308 | 1 | 2 | NC_037329.1:g.7331916G>T | XM_024979774.1:c.2366G>T | XP_024835542.1:p.(G789V) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
Summary
This phene has been renamed from "Ehlers-Danlos syndrome, classic type, 2" to "classical Ehlers-Danlos syndrome (cEDS), COL5A2-related" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].
Molecular Genetics
Jacinto et al. (2020): "Whole‐genome sequencing (WGS) identified a most likely disease‐causing mutation in the COL5A2 gene. . . . Genetic analysis revealed a private heterozygous missense variant inCOL5A2 (c.2366G>T; p.Gly789Val) that was present only in the calf and dam."