Categories: Skeleton phene (incl. short stature & teeth) , Craniofacial phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604653 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Molecular basis: Jacinto et al. (2025): "A Holstein heifer ... was clinically diagnosed with scoliosis of the caudal vertebra (“crooked tail”), thoracic scoliosis, and skull dysplasia. The [whole genome sequencing based] trio-approach identified a heterozygous missense variant in exon 5 of SLC40A1, affecting the ferroportin-1 domain of SLC40A1 (Chr2:g.6785954 T > A; c.323 T > A; p.Ile108Asn) [omia.variant:1839]. The pathogenic variant most likely arose post-zygotically due to a spontaneous de novo mutation during the development of the embryo, as no variant reads were observed in either parental DNA."

Breed: Holstein Friesian (Cattle) (VBO_0000239).
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: