This panel is used for clinical indication 'R93 Thalassaemia and other haemoglobinopathies' in the NHS Genomic Medicine Service. Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R93 Thalassaemia and other haemoglobinopathies'. This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated version number. CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
HBA1 |
1 review1 green |
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Tags |
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| Green List (high evidence) |
HBB |
1 review1 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Tags |
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| Amber List (moderate evidence) |
HBA2 |
1 review1 green |
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Tags |
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| Amber List (moderate evidence) |
HBG1 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Tags |
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| Amber List (moderate evidence) |
HBG2 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Tags |
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2023-09-14 13:06 Mafalda Gomes (Genomics England Curator) promoted panel to 1.0
The content of this panel has been produced in agreement with the NHS Genomic Medicine Service. The panel was promoted to the first major version (1.0) following this.