IthaID: 2418
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Swiss (εγδβ)0 | HGVS Name: | NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in a Swiss female presented with hypochromic anaemia with erythroblastosis and reticulocytosis. She required repeated blood transfusions during the first few days of life. During infantile development, she showed a spastic cerebral paresis combined with developmental delay, small height, low weighted and slightly dysmorphic features including a narrow upper lip, a flat philtrum, upslanting palpebral fissures, and hypoplastic ear lobules. This (εγδβ)0-thal deletion doubles the size and triples the number of affected genes.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Swiss |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Von Kanel T, Röthlisberger B, Schanz U, Dutly F, Huber AR, Saller E, A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment., Am. J. Hematol. , 88(2), 158-9, 2013 PubMed
Created on 2014-05-29 12:40:19,
Last reviewed on 2021-03-17 13:14:26 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-05-29 12:40:19 | The IthaGenes Curation Team | Created |
| 2 | 2014-05-29 12:51:21 | The IthaGenes Curation Team | Reviewed. HGVS name and involved genes corrected. |
| 3 | 2014-05-29 12:52:33 | The IthaGenes Curation Team | Reviewed. Clinical phenotype added. |
| 4 | 2021-03-17 13:14:26 | The IthaGenes Curation Team | Reviewed. HGVS name and chromosome location corrected. Comment added. |
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IthaGenes was last updated on 2024-12-12 10:33:52