Search Phenotypes

Cataract, ADAMTSL4-related

Häfliger et al. (2022): "Whole-genome sequencing of the parent-offspring trio revealed a de novo mutation of ADAMTSL4 in this case. The heterozygous p.Arg776His missense variant affects a conserved residue of the ADAMTSL4 gene that encodes a secreted glycoprotein expressed in the lens throughout embryonic development." The authors were careful to note that "Given that this is a single case investigation and that we have no functional confirmat...

OMIA ID: 2535Inheritance: 3Characterised: YesYear: 2022

Slick hair

This single-locus autosomal dominant trait confers increased thermotolerance within the breeds in which it originated (Senepol and Carora; Olsen et al., 2003) and also within Hosteins, into which it was introgressed (Dikmen et al., 2008; 2014). In the USA, FDA determined in March 2022 that beef cattle with a genome edit to the PRLR gene and their offspring do not raise any safety concerns. "Based on the safety of consumption of meat from conve...

OMIA ID: 1372Inheritance: Olson et al. (2003) reported "a major gene (designated as the slick hair gene...Characterised: YesYear: 2014