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)

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.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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

Reference


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.

Edit History


  • Created by Frank Nicholas on 02 Nov 2010
  • Changed by Frank Nicholas on 12 Dec 2011