OMIA:001461-9217 : Gangliosidosis, GM2, type I (B variant) in Phoenicopterus ruber (American flamingo)
Categories: Lysosomal storage disease
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: 2008
Cross-species summary: Tay-Sachs disease
Molecular basis: In a clear sign of the times, in a single paper Zeng et al. (2008) not only described the occurrence of a lysosomal storage disease in just two American famingoes, but also, based on the clinical signs and pathology of these two birds, were able to show the cause as a P469L missense mutation in exon 12 of the HEXA gene. Although the disorder has been reported in other species of non-laboratory animals, this is the first reported case of naturally-occurring HEXA deficiency in animals that has been characterised at the DNA level.
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HEXA||Phoenicopterus ruber||-||no genomic information (-..-)||HEXA||Ensembl|
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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|
|1178||Tay-Sachs disease||HEXA||missense||Naturally occurring variant||c.1406C>T||p.(P469L)||2008||18693054|
Cite this entry
|2008||Zeng, BJ., Torres, PA., Viner, TC., Wang, ZH., Raghavan, SS., Alroy, J., Pastores, GM., Kolodny, EH. :|
|Spontaneous appearance of Tay-Sachs disease in an animal model. Mol Genet Metab 95:59-65, 2008. Pubmed reference: 18693054. DOI: 10.1016/j.ymgme.2008.06.010.|
- Created by Frank Nicholas on 20 Sep 2008
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 22 Mar 2012
- Changed by Frank Nicholas on 15 May 2020