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| Agammaglobulinaemia with absent BTK expression v0.4 | BTK | Eleanor Williams changed review comment from: BTK has been added to the panel for R233 Agammaglobulinaemia with absent BTK expression with a green rating as agreed with the NHS Genomic Medicine Service.; to: BTK has been added to the panel for the clinical indication 'R233 Agammaglobulinaemia with absent BTK expression' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Agammaglobulinaemia with absent BTK expression v0.4 | BTK | Eleanor Williams reviewed gene: BTK: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Agammaglobulinaemia with absent BTK expression v0.3 | BTK |
Eleanor Williams gene: BTK was added gene: BTK was added to Agammaglobulinaemia with absent BTK expression. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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| Agammaglobulinaemia with absent BTK expression v0.0 |
Eleanor Williams Added Panel Agammaglobulinaemia with absent BTK expression Set list of related panels to R233 |
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