--- license: permission_granted topic_id: companion_breed_health_shetland_sheepdog_omia4816_dog category: companion-breed-health title: "Shetland Sheepdog — Bardet-Biedl syndrome 2 (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/shetland_sheepdog_omia4816_4816.txt date_parsed: 2026-08-02 tokens_estimated: 147 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_shetland_sheepdog_omia4816_dog/01_companion_breed_health_shetland_sheepdog_omia4816_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Shetland Sheepdog — Bardet-Biedl syndrome 2 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002484/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Shetland Sheepdog — Bardet-Biedl syndrome 2 (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Shetland Sheepdog (Dog)Disorder:Mode of inheritance: Probably autosomal recessiveSummary: Hitti-Malin et al. (2021) elucidate the causal variant for a distinct form of [progressive retinal atrophy] PRA in the Shetland sheepdog, using a whole-genome sequencing approach.Clin feat: Hitti-Malin et al. (2021): In addition to PRA, additional clinical features in homozygous dogs support the discovery of a novel syndromic PRA in the breed.Defect: yes
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 388246182 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Hitti-Malin et al. (2021): "Filtering variants from a single PRA-affected Shetland sheepdog genome compared to 176 genomes of other breeds identified a single nucleotide variant in exon 11 of the Bardet-Biedl syndrome-2 gene (BBS2) (c.1222G>C; p.Ala408Pro). Genotyping 1386 canids of 155 dog breeds, 15 cross breeds and 8 wolves indicated the c.1222G>C variant was only segregated within Shetla…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2021. A missense variant in the Bardet-Biedl syndrome 2 gene (BBS2) leads to a novel syndromic retinal degeneration in the Shetland Sheepdog. Genes (Basel) — PubMed:PMID34828377 | DOI:10.3390/genes12111771 — OMIA Phene_Article / Article
- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:615981 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606151 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."