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Pulmonary fibrosis familial v1.7 MUC5B Ida Ertmanska Tag Q4_25_MOI tag was added to gene: MUC5B.
Pulmonary fibrosis familial v1.7 MUC5B Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are at least 3 unrelated families where individuals with bronchiectasis and recurrent pulmonary infections carried homozygous or compound heterozygous variants in MUCB5. In addition, a supportive mouse model showed that muc5b knockout leads to airway obstruction and spontaneous pulmonary infections. Based on available evidence, the mode of inheritance should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal for Pulmonary fibrosis familial.; to: Comment on mode of inheritance: There are at least 3 unrelated families where individuals with bronchiectasis and recurrent pulmonary infections carried homozygous or compound heterozygous variants in MUCB5. In addition, a supportive mouse model showed that muc5b -/- knockout leads to airway obstruction and spontaneous pulmonary infections. Based on available evidence, the mode of inheritance should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal for Pulmonary fibrosis familial.
Pulmonary fibrosis familial v1.7 MUC5B Ida Ertmanska commented on gene: MUC5B: Comment on mode of inheritance: There are at least 3 unrelated families where individuals with bronchiectasis and recurrent pulmonary infections carried homozygous or compound heterozygous variants in MUCB5. In addition, a supportive mouse model showed that muc5b knockout leads to airway obstruction and spontaneous pulmonary infections. Based on available evidence, the mode of inheritance should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal for Pulmonary fibrosis familial.
Pulmonary fibrosis familial v1.7 MUC5B Ida Ertmanska edited their review of gene: MUC5B: Changed rating: GREEN; Changed publications to: 24317696, 33526882, 35023825; Changed phenotypes to: {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:178500, Pulmonary fibrosis, HP:0002206; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary fibrosis familial v1.7 MUC5B Ida Ertmanska commented on gene: MUC5B
Pulmonary fibrosis familial v1.7 MUC5B Matthew Edwards reviewed gene: MUC5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Risk allele for Pulmonary Fibrosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
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'
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'
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