Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
41 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.8 | HBG2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #141749 & #613977), and the OMIM records were last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.8 | HBG2 | Achchuthan Shanmugasundram Phenotypes for gene: HBG2 were changed from to Fetal hemoglobin quantitative trait locus 1, OMIM:141749; Cyanosis, transient neonatal, OMIM:613977; cyanosis, transient neonatal, MONDO:0013511 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.7 | HBG1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with MIM #141749 in OMIM and the OMIM record was last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.7 | HBG1 | Achchuthan Shanmugasundram Phenotypes for gene: HBG1 were changed from to Fetal hemoglobin quantitative trait locus 1, OMIM:141749 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.6 | HBB | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #140700, #141749, #603902, #603903, #613985, #617971 & #617980), and the OMIM records were last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.6 | HBB | Achchuthan Shanmugasundram Phenotypes for gene: HBB were changed from to Heinz body anemia, OMIM:140700; Delta-beta thalassemia, OMIM:141749; Hereditary persistence of fetal hemoglobin, OMIM:141749; Thalassemia-beta, dominant inclusion-body, OMIM:603902; Sickle cell disease, OMIM:603903; Thalassemia, beta, OMIM:613985; Methemoglobinemia, beta type, OMIM:617971; Erythrocytosis, familial, 6, OMIM:617980; dominant beta-thalassemia, MONDO:0011381; sickle cell disease, MONDO:0011382; beta-thalassemia HBB/LCRB, MONDO:0013517; hemoglobin M disease, MONDO:0018023; erythrocytosis, familial, 6, MONDO:0054801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.5 | HBA2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #140700, #604131, #613978 & #617981), and the OMIM records were last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.5 | HBA2 | Achchuthan Shanmugasundram Phenotypes for gene: HBA2 were changed from to Heinz body anemias, alpha-, OMIM:140700; Thalassemias, alpha-, OMIM:604131; Hemoglobin H disease, deletional and nondeletional, OMIM:613978; Erythrocytosis, familial, 7, OMIM:617981; HBA2-related alpha thalassemia spectrum, MONDO:0100562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.4 | HBA1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #140700, #604131, #613978, #617973 & #617981), and the OMIM records were last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.4 | HBA1 | Achchuthan Shanmugasundram Phenotypes for gene: HBA1 were changed from to Heinz body anemias, alpha-, OMIM:140700; Thalassemias, alpha-, OMIM:604131; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Erythrocytosis, familial, 7, OMIM:617981; HBA1-related alpha thalassemia spectrum, MONDO:0100561; methemoglobinemia, alpha type, MONDO:0020835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.3 | Achchuthan Shanmugasundram Panel version 2.2 has been signed off on 2025-04-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.2 |
Achchuthan Shanmugasundram Panel name changed from Thalassaemia and other haemoglobinopathies to Sickle cell, thalassaemia and other haemoglobinopathies List of related panels changed from R93 to R93; Thalassaemia and other haemoglobinopathies |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2024-08-07 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.9 | HBG2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.9 | HBG1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.9 | HBA2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.9 | HBG2 | Sarah Leigh reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.9 | HBG1 | Sarah Leigh reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.8 | HBG2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HBG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.8 | HBG1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HBG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.7 | HBG2 | Arina Puzriakova Classified gene: HBG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.7 | HBG2 | Arina Puzriakova Gene: hbg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.6 | HBG2 |
Arina Puzriakova gene: HBG2 was added gene: HBG2 was added to Thalassaemia and other haemoglobinopathies. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.5 | HBG1 | Arina Puzriakova Classified gene: HBG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.5 | HBG1 | Arina Puzriakova Gene: hbg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.4 | HBG1 |
Arina Puzriakova gene: HBG1 was added gene: HBG1 was added to Thalassaemia and other haemoglobinopathies. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.3 | HBA2 | Arina Puzriakova Classified gene: HBA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.3 | HBA2 | Arina Puzriakova Gene: hba2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.2 | HBA2 |
Arina Puzriakova gene: HBA2 was added gene: HBA2 was added to Thalassaemia and other haemoglobinopathies. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.1 | Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v1.0 | Mafalda Gomes promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v0.3 | Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v0.1 | HBA1 | Achchuthan Shanmugasundram reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v0.1 | HBB |
Achchuthan Shanmugasundram gene: HBB was added gene: HBB was added to Thalassaemia and other haemoglobinopathies. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HBB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v0.1 | HBA1 |
Achchuthan Shanmugasundram gene: HBA1 was added gene: HBA1 was added to Thalassaemia and other haemoglobinopathies. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HBA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sickle cell, thalassaemia and other haemoglobinopathies v0.0 |
Achchuthan Shanmugasundram Added Panel Thalassaemia and other haemoglobinopathies Set list of related panels to R93 Set panel types to: GMS Rare Disease |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||