OMIA:001574-9615 : Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Canis lupus familiaris
In other species: pig
Categories: Immune system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601457 (trait) , 179615 (gene)
Links to MONDO diseases:
- MONDO:0011086: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
Species-specific symbol: T-B-NK+ SCID
Molecular basis: Verfuurden et al. (2011): c.2893G>T; p.Glu965* in Frisian Water Dog
Breed: Frisian Water Dog.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RAG1||recombination activating gene 1||Canis lupus familiaris||18||NC_051822.1 (32244956..32241825)||RAG1||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|
|284||Frisian Water Dog||Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive||RAG1||nonsense (stop-gain)||Naturally occurring variant||CanFam3.1||18||g.31631772C>A||c.2893G>T||p.(E965*)||2011||21293384||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2011||Verfuurden, B., Wempe, F., Reinink, P., van Kooten, PJ., Martens, E., Gerritsen, R., Vos, JH., Rutten, VP., Leegwater, PA. :|
|Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12:310-3, 2011. Pubmed reference: 21293384 . DOI: 10.1038/gene.2011.6.|
- Created by Frank Nicholas on 13 Jul 2011
- Changed by Frank Nicholas on 10 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 31 Mar 2016
- Changed by Frank Nicholas on 28 Aug 2016