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| Haemoglobinopathy trait or carrier testing v1.6 | HBG2 |
Arina Puzriakova gene: HBG2 was added gene: HBG2 was added to Haemoglobinopathy trait or carrier testing. Sources: NHS GMS Q4_23_promote_green tags were added to gene: HBG2. Mode of inheritance for gene: HBG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: HBG2 was set to GREEN Added comment: This gene has been added to the panel at the request of the NHSE specialist group. There is sufficient evidence to promote this gene to Green at the next GMS panel update. ----- Copied review below from Arianna Tucci (UCL) on Cytopenias and congenital anaemias (159) panel for HBG1 gene (also relevant to HBG2): "delta beta thalassemia can result from deletions within or encompassing the beta-globin gene cluster (see HBB, 141900) on chromosome 11p15, including deletions that also encompass the delta-globin gene (142000), or from point mutations in the promoter regions of either the HBG1 (142200) or the HBG2 (142250) gene" Sources: NHS GMS |
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| Haemoglobinopathy trait or carrier testing v1.4 | HBG1 |
Arina Puzriakova gene: HBG1 was added gene: HBG1 was added to Haemoglobinopathy trait or carrier testing. Sources: NHS GMS Q4_23_promote_green tags were added to gene: HBG1. Mode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: HBG1 was set to GREEN Added comment: This gene has been added to the panel at the request of the NHSE specialist group. There is sufficient evidence to promote this gene to Green at the next GMS panel update. ----- Copied review below from Arianna Tucci (UCL) on Cytopenias and congenital anaemias (159) panel: "delta beta thalassemia can result from deletions within or encompassing the beta-globin gene cluster (see HBB, 141900) on chromosome 11p15, including deletions that also encompass the delta-globin gene (142000), or from point mutations in the promoter regions of either the HBG1 (142200) or the HBG2 (142250) gene" Sources: NHS GMS |
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| Haemoglobinopathy trait or carrier testing v0.1 | HBB | Achchuthan Shanmugasundram changed review comment from: HBB has been added to the panel for R288 GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB with a green rating as agreed with the NHS Genomic Medicine Service.; to: HBB has been added to the panel for R361 Haemoglobinopathy trait or carrier testing with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemoglobinopathy trait or carrier testing v0.1 | HBB | Achchuthan Shanmugasundram reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemoglobinopathy trait or carrier testing v0.1 | HBB |
Achchuthan Shanmugasundram gene: HBB was added gene: HBB was added to Haemoglobinopathy trait or carrier testing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HBB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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