Phenotypes
Cardiac malformation, BRI3BP-related
He et al. (2024) investigated a Holstein calf with complex congenital heart defects and carpus valgus: "Genetic analysis revealed a private heterozygous missense variant in BRI3BP affecting an evolutionarily conserved residue (c.478G>A; p.Val160Ile). The variant was predicted to be deleterious and was present only in the affected calf and was absent in more than 5100 sequenced bovine genomes, including both parents, indicating a de novo ori...
Developmental duplications
Much useful information on this disorder, including a video, is available from http://www.angus.org/pub/DD/DDInfo.aspx
Glycogen storage disease V — Myophosphorylase deficiency
The first occurrence of this disorder in any domestic species was reported by Angelos et al. (1995), in Charolais cattle.
Hypomyelinogenesis, congenital — Charolais ataxia; Progressive ataxia of Charolais
By comparing whole-genome sequenced data (from 2 affecteds and one control) in the candidate region (see Mapping section), and filtering resultant candidate variants, Duchesne et al. (2018) narrowed the field down to "a single substitution in exon 5 of KIF1C (chr19:27041449 C/T). For easier comprehension and since KIF1C gene in cattle is on the reverse strand, the substitution will be referred as KIF1C G>A in order to match with the transcr...
Myeloencephalopathy, progressive degenerative, PNPLA8-related — Weaver syndrome; Haplotype BHW; bovine degenerative progressive myeloencephalopathy
Kunz et al. (2016) reported a likely causal mutation as "a missense mutation (p.S568N, c.G1703A; [Chr4: 49,878,773 bp, rs800397662]) in the PNPLA8 gene that encodes patatin-like phospholipase domain containing 8".