Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604289 (gene)

Single-gene trait/disorder: unknown

Mode of inheritance: Autosomal recessive

Disease-related: yes

Cross-species summary: Coat colour, white

Molecular basis: Jacinto et al. (2025) used "a trio-based whole-genome sequencing approach" to identify a homozygous variant of uncertain significace in RAD54B  (chr14:g.69964786_69964792delinsAACTTAATTTTTTGTTAA; NM_001192955.1:c.2164_2170_delins; NP_001179884.1:p.Ala722_Gly724delinsAsnLeuIlePheCys*) in an affected Simmental calf with an syndromic form of depigmentation.

Clinical features: Jacinto et al. (2025): "Clinically, this [Simmental] calf presented with a predominantly white coat color and isolated residual pigmentation, failure to thrive, recurrent respiratory infections, and an umbilical hernia ... ."

Breed: Simmental (Cattle) (VBO_0000380).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: