| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Acute intermittent porphyria v0.4 | HMBS | Eleanor Williams edited their review of gene: HMBS: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute intermittent porphyria v0.4 | HMBS | Eleanor Williams changed review comment from: This gene has been added to the panel for R169 Acute intermittent porphyria with a green rating as agreed with the NHS Genomic Medicine Service.; to: HMBS has been added to the panel for R169 Acute intermittent porphyria with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute intermittent porphyria v0.4 | HMBS | Eleanor Williams commented on gene: HMBS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute intermittent porphyria v0.3 | HMBS |
Eleanor Williams gene: HMBS was added gene: HMBS was added to Acute intermittent porphyria. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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