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| Haemoglobinopathy trait or carrier testing v1.9 | HBA2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemoglobinopathy trait or carrier testing v1.9 | HBA2 | Sarah Leigh reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemoglobinopathy trait or carrier testing v1.8 | HBA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HBA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Haemoglobinopathy trait or carrier testing v1.3 | HBA2 | Arina Puzriakova Classified gene: HBA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemoglobinopathy trait or carrier testing v1.3 | HBA2 | Arina Puzriakova Gene: hba2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haemoglobinopathy trait or carrier testing v1.2 | HBA2 |
Arina Puzriakova gene: HBA2 was added gene: HBA2 was added to Haemoglobinopathy trait or carrier testing. Sources: NHS GMS Q4_23_promote_green tags were added to gene: HBA2. Mode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Review for gene: HBA2 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 regarding MOI from Arianna Tucci (UCL) on Cytopenias and congenital anaemias (159) panel: "There are two alpha globin genes (HBA1 and HBA2), which are encoded in tandem on chromosome 16. Different Mutations in HBA1/HBA2 are associated with different α-thalassemias and different mode of inheritance: 1) α-thalassemia silent carrier: deletion/mutation that leads to loss of 1 α-globin gene (either HBA1 or HBA2) 2) α-thalassemia trait: deletion/mutations that leads to the loss of 2 α-globin genes either in cis (--/αα) or in trans (-α/-α); 3) Hemoglobin H disease is caused by contiguous gene deletion of HBA1 and HBA2 genes on one chromosome, and a defect (deletional / inactivating small indel /single nucleotide variant), in either HBA1 or HBA2 on the other chromosome; 4) 'homozygous alpha-thalassemia' (fatal hydrops fetalis): usually caused by deletions on both chromosomes, leading no/little production of alpha globin and death in utero. The phenotypes relevant to this panel are the α-thalassemia trait and the Hemoglobin H disease. Mostly caused by deletions but rare cases of small indels or point mutations leading to decreased production of the alpha globin chains have been described (16798638, 15481890, 15182057 for example)" Sources: NHS GMS |
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