| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary fibrosis familial v0.4 | MUC5B | Arina Puzriakova commented on gene: MUC5B: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.4 | MUC5B | Arina Puzriakova Classified gene: MUC5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.4 | MUC5B | Arina Puzriakova Gene: muc5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.3 | MUC5B | Arina Puzriakova Publications for gene: MUC5B were set to 21506748; 21506741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | MUC5B |
Arina Puzriakova changed review comment from: Single common SNP in the promoter of MUC5B confers susceptibility to idiopathic pulmonary fibrosis. Applicant review states, 'There are no known or published ethnic differences in detection rates, except for a low allele frequency of a MUC5B promotor SNP in Africans, which is known to be a risk allele for FPF. This SNP would be included in a gene panel for FPF'; to: Association of the minor allele (T) of a single common SNP in the promoter of MUC5B (rs35705950), conferring susceptibility to idiopathic pulmonary fibrosis. Applicant review states, 'There are no known or published ethnic differences in detection rates, except for a low allele frequency of a MUC5B promotor SNP in Africans, which is known to be a risk allele for FPF. This SNP would be included in a gene panel for FPF' |
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| Pulmonary fibrosis familial v0.2 | MUC5B | Arina Puzriakova Tag promoter tag was added to gene: MUC5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | MUC5B |
Arina Puzriakova changed review comment from: Single common SNP in the promoter of MUC5B confers susceptibility to idiopathic pulmonary fibrosis. Applicant review states, 'There are no known or published ethnic differences in detection rates, except for a low allele frequency of a MUC5B promotor SNP in Africans, which is known to be a risk allele for FPF. This SNP would be included in a gene panel for FPF'; to: Single common SNP in the promoter of MUC5B confers susceptibility to idiopathic pulmonary fibrosis. Applicant review states, 'There are no known or published ethnic differences in detection rates, except for a low allele frequency of a MUC5B promotor SNP in Africans, which is known to be a risk allele for FPF. This SNP would be included in a gene panel for FPF' |
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| Pulmonary fibrosis familial v0.2 | MUC5B | Arina Puzriakova changed review comment from: Single common SNP in the promoter of MUC5B confers susceptibility to idiopathic pulmonary fibrosis. Applicant review states, There are no known or published ethnic differences in detection rates, except for a low allele frequency of a MUC5B promotor SNP in Africans, which is known to be a risk allele for FPF. This SNP would be included in a gene panel for FPF; to: Single common SNP in the promoter of MUC5B confers susceptibility to idiopathic pulmonary fibrosis. Applicant review states, 'There are no known or published ethnic differences in detection rates, except for a low allele frequency of a MUC5B promotor SNP in Africans, which is known to be a risk allele for FPF. This SNP would be included in a gene panel for FPF' | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | MUC5B | Arina Puzriakova commented on gene: MUC5B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.1 | MUC5B |
Arina Puzriakova gene: MUC5B was added gene: MUC5B was added to Pulmonary fibrosis familial. Sources: Expert Review Red Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MUC5B were set to 21506748; 21506741 Phenotypes for gene: MUC5B were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:178500 |
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