IthaID: 4060
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --AG | HGVS Name: | NC_000016.10:g.10001_(284537_284542)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Large deletion of about 274 kb spanning from the telomeric region in 5′ the genes POLR3K, RHBDF1, MPG, NPRL3, all the α-globin gene cluster, LUC7L, FAM234A, and RGS11, to the exon 2 of the PDIA2 gene in the 3′. The deletion was identified in a family from Agrigento and was associated with α0-thalassemia and not the ATR-16 syndrome.
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: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Cardiero G, Musollino G, Prezioso R, Nigro V, Lacerra G, Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster., Int J Mol Sci, 24(3), 0, 2023
Created on 2023-07-05 14:39:40,
Last reviewed on 2023-07-06 10:57:31 (Show full history)
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.