| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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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