OMIA:002279-9615 : Ataxia, spinocerebellar, SLC12A6-related in Canis lupus familiaris |
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 218000 (trait) , 604878 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2019
Molecular basis: Van Poucke et al. (2019): "whole-exome sequencing identified the SLC12A6 NC_006612.3(XM_014109414.2): c.178_181delinsCATCTCACTCAT (p.(Met60Hisfs*14)) truncating variant. This loss-of-function variant perfectly segregated within the affected Malinois family in an autosomal recessive way and was not found in 562 additional reference dogs from 18 different breeds, including Malinois."
Clinical features: Van Poucke et al. (2019): "progressive spinocerebellar ataxia, which is the most important feature of the canine phenotype, hindlimb paresis, and myokymia-like muscle contractions"
Breed: Malinois.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SLC12A6 | solute carrier family 12 (potassium/chloride transporter), member 6 | Canis lupus familiaris | 30 | NC_051834.1 (868821..957072) | SLC12A6 | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1218 | Malinois | Ataxia, spinocerebellar, SLC12A6-related | SLC12A6 | delins, small (<=20) | Naturally occurring variant | CanFam3.1 | 30 | g.774122_774125delinsCATCTCACTCAT | c.178_181delinsCATCTCACTCAT | p.(M60Hfs*14) | XM_014109414.2; XP_013964889.1; 12-bp insertion (CATCTCACTCAT) and a 4-bp deletion (ATGA) | 2019 | 31160700 |
Reference
| 2019 | Van Poucke, M., Stee, K., Sonck, L., Stock, E., Bosseler, L., Van Dorpe, J., Van Nieuwerburgh, F., Deforce, D., Peelman, L.J., Van Ham, L., Bhatti, S.F.M., Broeckx, B.J.G. : |
| Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. Eur J Hum Genet 27:1561-1568, 2019. Pubmed reference: 31160700 . DOI: 10.1038/s41431-019-0432-3. |
Edit History
- Created by Frank Nicholas on 18 Jun 2020
- Changed by Frank Nicholas on 18 Jun 2020