Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616846 (gene) , 616875 (trait)

Links to relevant human diseases in MONDO:

• MONDO:0014811: cerebellar atrophy, visual impairment, and psychomotor retardation;

Single-gene trait/disorder: yes

Mode of inheritance: Probably autosomal dominant

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2026

Species-specific name: Granuloprival cerebellar cortical degeneration

Molecular basis: Shekelle et al. (2026): "A novel, heterozygous point mutation [omia.variant:1901] in the endoplasmic reticulum membrane protein complex subunit 1 (EMC1) gene was detected [in an affected mixed breed dog] via whole genome sequencing ."

Clinical features: Shekelle et al. (2026): "A mixed-breed male puppy had a 6-month history of progressive cerebellar ataxia and head tremors ... ." without a clinically detectable cause. Euthanasia with a necropsy was elected based on the severity of the puppy's clinical signs and lack of response to treatment. At necropsy, the cerebellum was mildly atrophied, and microscopically there was severe diffuse loss of the cerebellar internal granular cell layer with minimal loss of Purkinje cells (granuloprival degeneration). 

Pathology: Shekelle et al. (2026): "At necropsy, the cerebellum was mildly atrophied, and microscopically there was severe diffuse loss of the cerebellar internal granular cell layer with minimal loss of Purkinje cells (granuloprival degeneration)."

Breed: Mixed Breed (Dog) (VBO_0200902).
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: