Search Phenotypes

Cerebellar abiotrophy, CACNA2D2-related

Jacinto et al. (2026): "Genetic analysis [of two affected Angus calvse] identified a private homozygous missense variant [omia.variant:1852] in the bovine CACNA2D2 gene (XP_024839037.1:p.(Cys395Arg)), which is linked to neurological disorders in other species, including a form of cerebellar atrophy in humans."

OMIA ID: 3025Inheritance: 5Characterised: YesYear: 2026

Lethality, FAM189A1-related

Bourneuf et al. (2017) detected FAM189A1 g.28644665T>C; p.N192S as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Montbéliarde AI bull. No information was provided on the descendants of this bull.

OMIA ID: 2259Inheritance: 5Characterised: YesYear: 2017