IthaID: 4062
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 285 kb deletion | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Large deletion of about 285 kb in size, extending from the WASH4P gene (telomeric region) in 5’ to a part of the AXIN1 gene in 3’. Removes the entire WASH4P gene, the α-globin gene cluster, and exons 5 to 10 of the AXIN1 gene. Found together with the -α3.7 deletion in trans in a proband with Hb H disease. The proband presented with scoliosis, likely a consequence of the genetic defect in AXIN1. The deletion associated with an α0-thalassemia phenotype and not the ATR-16 syndrome. Mother was heterozygous for the deletion.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | French/Algerian |
| 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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Joly P, Lacan P, Labalme A, Bonhomme E, Sanlaville D, Francina A, A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease., Haematologica, 95(5), 850-1, 2010 PubMed
Created on 2023-07-06 11:47:35,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-07-06 11:47:35 | The IthaGenes Curation Team | Created |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07