OMIA:001515-9615 : Colorectal hamartomatous polyposis and ganglioneuromatosis in Canis lupus familiaris
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 158350 (trait) , 601728 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
History: Also known as Cowden syndrome.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PTEN||phosphatase and tensin homolog||Canis lupus familiaris||26||NC_051830.1 (39359420..39447205)||PTEN||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|698||Great Dane||Colorectal hamartomatous polyposis and ganglioneuromatosis||PTEN||insertion, gross (>20)||Naturally occurring variant||26||"Duplication of PTEN"||2011||20952721|
|2011||Bemelmans, I., Küry, S., Albaric, O., Hordeaux, J., Bertrand, L., Nguyen, F., Abadie, J. :|
|Colorectal hamartomatous polyposis and ganglioneuromatosis in a dog. Vet Pathol 48:1012-5, 2011. Pubmed reference: 20952721 . DOI: 10.1177/0300985810384411.|
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Frank Nicholas on 12 Dec 2011