Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 617988 (trait) , 607434 (gene)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2025

Molecular basis: Murgiano et al. (2025): "Homozygosity mapping and whole-genome sequencing [of 2 affected Labrador retrievers and their unaffected parents] detected a homozygous 3-bp deletion in the coding region of GTPBP2, located in CFA12 (NC_049233.1:12,264,348_12,264,350del, c.1606_1608del, p.Ala536del)."

Clinical features: Murgiano et al. (2025) report 3 affected Labrador retrievers from the same litter with progressive retinal atrophy with onset of clinical signs between 7 month and 1.5 years. "Two of the dogs developed Addison’s disease .... ; one of these later developed diabetes mellitus and died from a hypoglycemic event."

Breed: Labrador Retriever (Dog) (VBO_0200800).
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: