| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v1.2125 | HBA1 | Seb Lunke Tag SV/CNV tag was added to gene: HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2125 | HBA1 | Zornitza Stark Marked gene: HBA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2125 | HBA1 | Zornitza Stark Added comment: Comment when marking as ready: Discussed again: remains technically challenging therefore not suitable for inclusion. Other screening publicly available in pregnancy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2125 | HBA1 | Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2124 | HBA1 | Zornitza Stark Tag for review was removed from gene: HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.191 | HBA1 | Zornitza Stark Publications for gene: HBA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.190 | HBA1 | Zornitza Stark Tag for review tag was added to gene: HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.159 | HBA2 |
Andrew Coventry changed review comment from: Well established and strong gene-disease association. Alpha-thalassemia result in anaemias from early childhood when fetal haemoglobin expression is diminished. Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2. Subtypes: Haemoglobin H disease is a subtype of alpha-thalassemia: Deletional' Hb H disease is caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia. Deletional Haemoglobin H - phenotypic variability ranging from asymptomatic, to needing periodic transfusions, to severe anaemia with haemolysis and hepatosplenomegaly, to fatal hydrops fetalis in utero. Variable age of onset and features - see PMID: 21345100 'Nondeletional' Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Disease phenotype is usually are greater levels of anaemia, more symptomatic, more likely to have significant hepatosplenomegaly, and greater likelihood to require transfusions. Note: Deletions are well known and frequent cause of these alpha thalassemia phenotypes and subtypes. Diverse range of non-deletional HBA2 variants also described. Possible technological challenge due to deletions which are prevalent.; to: Well established gene-disease association. The alpha-thalassemia phenotype ranges from asymptomatic to lethal. The severity of the disorder is usually well correlated with the number of non-functional copies of the alpha-globin genes (HBA1/HBA2). Gene function can be lost by deletion, or by SNVs (total loss or partial).The clinically relevant forms of alpha-thalassemia usually involve alpha(0)-thalassemia, either coinherited with alpha(+)-thalassemia and resulting in HbH disease, or inherited from both parents and resulting in haemoglobin Bart hydrops fetalis. Note: Deletions are well known and frequent cause of these alpha thalassemia phenotypes and subtypes. Diverse range of non-deletional HBA2 variants also described. Possible technological challenge due to deletions which are prevalent. |
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| Prepair 1000+ v1.159 | HBA1 | Andrew Coventry reviewed gene: HBA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21381239 11722414 36907606; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | HBA1 | Zornitza Stark Marked gene: HBA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | HBA1 | Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | HBA1 | Zornitza Stark Classified gene: HBA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | HBA1 | Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | HBA1 | Zornitza Stark Tag for review was removed from gene: HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | HBA1 | Zornitza Stark reviewed gene: HBA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.86 | HBA1 | Zornitza Stark Tag for review tag was added to gene: HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | HBA2 |
Crystle Lee gene: HBA2 was added gene: HBA2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HBA2 were set to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131 Review for gene: HBA2 was set to RED Added comment: Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2. Note deletions are common. Sources: Literature |
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| Prepair 1000+ v0.61 | HBA1 |
Crystle Lee gene: HBA1 was added gene: HBA1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA1 were set to Erythrocytosis 7, MIM# 617981; Heinz body anemias, alpha-, MIM# 140700; Methemoglobinemia, alpha type , MIM#617973; Thalassemias, alpha-, MIM# 604131; Hemoglobin H disease, nondeletional, MIM# 613978 Review for gene: HBA1 was set to RED Added comment: Well established gene-disease associations. Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2. Note deletions are common. Sources: Literature |
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