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].
OMIA ID:2295Inheritance: 3Characterised: YesYear: 2020
Gutiérrez-Gil et al. (2007): c.64G>A Jolly et al. (2008): c.50_52delTTC Laible et al. (2021): "To better adapt dairy cattle to rapidly warming climates, we aimed to lighten their coat color by genome editing. ... Using gRNA/Cas9-mediated editing, we introduced a three bp deletion in the pre-melanosomal protein 17 gene (PMEL) proposed as causative variant for the semi-dominant color dilution phenotype observed in Galloway and Highland cattl...
OMIA ID:1545Inheritance: 5Characterised: YesYear: 2007
Dwarfism, proportionate, with inflammatory lesions
Sartelet et al. (2012) identified the causative mutation as a "c124-2A>G splice variant in intron 1 of the RNF11 gene". This gene encodes RING finger protein 11, which is a key regulator in the A20 complex of the inflammatory response.
OMIA ID:1686Inheritance: This form of proportionate dwarfism is autosomal recessive. However, because ...Characterised: YesYear: 2012
