IthaID: 3578
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 2.2 Mb deletion | HGVS Name: | NC_000011.10:g.4052720_6253287del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The de novo deletion was reported in a mixed European descent neonate presented with microcytic hemolytic anemia, hyperbilirubinemia, hypoglycemia and hypothermia. The propositus required two blood transfusions in the first two months of life. SNP microarray analysis identified a 2.2 Mb deletion containing 77 genes, including the entire β-globin gene cluster as well as the β-globin LCR, causing εγδβ thassaemia. The 5’ breakpoint is localised, at position 4052720 and the 3’ breakpoint is localized at position 6253287 (coordinates: GRCh38.p13, NC_000011.10).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | European Caucasian |
| 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
- Repnikova E, Roberts J, Mc Dermott S, Farooqi MS, Iqbal NT, Silvey M, Nolen J, Taboada E, Li W, Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases., Pathol. Res. Pract., 215(10), 152578, 2019 PubMed
Created on 2020-03-17 11:08:02,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-03-17 11:08:02 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07