| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pulmonary fibrosis familial v1.7 | ZCCHC8 | Arina Puzriakova Publications for gene: ZCCHC8 were set to 31488579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v1.6 | ZCCHC8 | Matthew Edwards reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31488579, 38375433; Phenotypes: Pulmonary fibrosis (PF), telomere related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v1.4 |
Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off Panel version 1.3 has been signed off on 2022-11-30 |
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| Pulmonary fibrosis familial v1.3 | Achchuthan Shanmugasundram Panel signed off version 1.0 has been removed | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v1.2 | Achchuthan Shanmugasundram Panel signed off version 1.1 has been removed | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v1.1 | Catherine Snow Panel version 1.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v1.0 | Catherine Snow promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.10 | HCK | Arina Puzriakova Entity copied from Primary immunodeficiency v2.568 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.10 | HCK |
Arina Puzriakova gene: HCK was added gene: HCK was added to Pulmonary fibrosis familial. Sources: Literature,Expert Review Red Mode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HCK were set to 34536415 Phenotypes for gene: HCK were set to Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease Penetrance for gene: HCK were set to unknown Mode of pathogenicity for gene: HCK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Pulmonary fibrosis familial v0.9 | CSF2RA | Arina Puzriakova Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.9 | MARS | Arina Puzriakova commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.9 | MARS | Arina Puzriakova Tag new-gene-name tag was added to gene: MARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.9 | NAF1 | Eleanor Williams Tag gene-checked tag was added to gene: NAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.9 | Eleanor Williams Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.8 | RPA1 | Arina Puzriakova changed review comment from: Comment on list classification: Heterogenous phenotypes have been recorded and only two individuals presented with pulmonary fibrosis (associated with post-transplant complications in one). At present this is sufficient to rate as amber but this may be reviewed if further evidence emerge.; to: Comment on list classification: Heterogenous phenotypes have been recorded and only two individuals presented with pulmonary fibrosis (associated with post-transplant complications in one). At present this is sufficient to rate as amber but this may be reviewed if further evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.8 | RPA1 | Arina Puzriakova edited their review of gene: RPA1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.8 | RPA1 | Arina Puzriakova Classified gene: RPA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.8 | RPA1 | Arina Puzriakova Added comment: Comment on list classification: Heterogenous phenotypes have been recorded and only two individuals presented with pulmonary fibrosis (associated with post-transplant complications in one). At present this is sufficient to rate as amber but this may be reviewed if further evidence emerge. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.8 | RPA1 | Arina Puzriakova Gene: rpa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.7 | RPA1 | Arina Puzriakova Entity copied from Cytopenia - NOT Fanconi anaemia v1.60 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.7 | RPA1 |
Arina Puzriakova gene: RPA1 was added gene: RPA1 was added to Pulmonary fibrosis familial. Sources: Literature Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPA1 were set to 34767620 Phenotypes for gene: RPA1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767 Penetrance for gene: RPA1 were set to Incomplete Mode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Pulmonary fibrosis familial v0.6 | ACD | Arina Puzriakova Phenotypes for gene: ACD were changed from Dyskeratosis congenita, autosomal dominant, OMIM:6 to Dyskeratosis congenita, autosomal dominant, OMIM:616553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.5 | ACD | Arina Puzriakova Publications for gene: ACD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ZCCHC8 |
Arina Puzriakova changed review comment from: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green. Applicant review states, The Clinical Genetics and Genomics Laboratory, RBHT has been delivering this testing as a pilot study for in-house patients for the past 2 years. Testing has been as part of a large inherited respiratory conditions gene panel, with SNV and CNV analysis.; to: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green. Applicant review states, 'The Clinical Genetics and Genomics Laboratory, RBHT has been delivering this testing as a pilot study for in-house patients for the past 2 years. Testing has been as part of a large inherited respiratory conditions gene panel, with SNV and CNV analysis.' |
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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' |
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| Pulmonary fibrosis familial v0.2 | RTEL1 |
Arina Puzriakova changed review comment from: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green. Applicant review states, There is extensive phenotypic and genotypic overlap with other telomeropathies, such as dyskeratosis congenita and Hermansky-Pudlak Syndrome, all of which have pulmonary fibrosis as a clinical feature. Some of the genes included in the panel have an autosomal recessive inheritance pattern in those disorders, but individuals who are heterozygous for pathogenic variants in the genes may develop later-onset pulmonary fibrosis.; to: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green. Applicant review states, 'There is extensive phenotypic and genotypic overlap with other telomeropathies, such as dyskeratosis congenita and Hermansky-Pudlak Syndrome, all of which have pulmonary fibrosis as a clinical feature. Some of the genes included in the panel have an autosomal recessive inheritance pattern in those disorders, but individuals who are heterozygous for pathogenic variants in the genes may develop later-onset pulmonary fibrosis.' |
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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 | ZCCHC8 | Arina Puzriakova reviewed gene: ZCCHC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | TINF2 | Arina Puzriakova reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | TERT | Arina Puzriakova reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | TERC | Arina Puzriakova reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | SFTPC | Arina Puzriakova reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | SFTPB | Arina Puzriakova reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | SFTPA2 | Arina Puzriakova reviewed gene: SFTPA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | SFTPA1 | Arina Puzriakova reviewed gene: SFTPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | RTEL1 | Arina Puzriakova reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | PARN | Arina Puzriakova reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | NOP10 | Arina Puzriakova reviewed gene: NOP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | NKX2-1 | Arina Puzriakova reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | NHP2 | Arina Puzriakova reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | NAF1 | Arina Puzriakova reviewed gene: NAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | MUC5B | Arina Puzriakova commented on gene: MUC5B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | MARS | Arina Puzriakova reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | HPS4 | Arina Puzriakova reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | HPS1 | Arina Puzriakova reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | DKC1 | Arina Puzriakova reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | CTC1 | Arina Puzriakova reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | CSF2RB | Arina Puzriakova reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | CSF2RA | Arina Puzriakova reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | AP3B1 | Arina Puzriakova reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | ACD | Arina Puzriakova reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.2 | ABCA3 | Arina Puzriakova reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.1 | ZCCHC8 |
Arina Puzriakova gene: ZCCHC8 was added gene: ZCCHC8 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZCCHC8 were set to 31488579 Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674 |
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| Pulmonary fibrosis familial v0.1 | TINF2 |
Arina Puzriakova gene: TINF2 was added gene: TINF2 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TINF2 were set to 18252230; 21477109 Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3, OMIM:613990 |
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| Pulmonary fibrosis familial v0.1 | TERT |
Arina Puzriakova gene: TERT was added gene: TERT was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERT were set to 17392301; 27836952; 16247010 Phenotypes for gene: TERT were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 |
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| Pulmonary fibrosis familial v0.1 | TERC |
Arina Puzriakova gene: TERC was added gene: TERC was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 17392301; 27836952; 20301408; 21436073 Phenotypes for gene: TERC were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:614743 |
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| Pulmonary fibrosis familial v0.1 | SFTPC |
Arina Puzriakova gene: SFTPC was added gene: SFTPC was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SFTPC were set to 11207353; 17005585; 20656946; 20301408 Phenotypes for gene: SFTPC were set to Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913 |
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| Pulmonary fibrosis familial v0.1 | SFTPB |
Arina Puzriakova gene: SFTPB was added gene: SFTPB was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SFTPB were set to 8163685; 15331184 Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120 |
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| Pulmonary fibrosis familial v0.1 | SFTPA2 |
Arina Puzriakova gene: SFTPA2 was added gene: SFTPA2 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SFTPA2 were set to 19100526; 26568241; 32855221 Phenotypes for gene: SFTPA2 were set to Interstitial lung disease 2, OMIM:178500 |
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| Pulmonary fibrosis familial v0.1 | SFTPA1 |
Arina Puzriakova gene: SFTPA1 was added gene: SFTPA1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: SFTPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SFTPA1 were set to 30854216; 26792177; 32855221; 28869238; 31601679 Phenotypes for gene: SFTPA1 were set to Interstitial lung disease 1, OMIM:619611 |
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| Pulmonary fibrosis familial v0.1 | RTEL1 |
Arina Puzriakova gene: RTEL1 was added gene: RTEL1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23959892; 25607374; 25848748 Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, OMIM:616373 |
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| Pulmonary fibrosis familial v0.1 | PARN |
Arina Puzriakova gene: PARN was added gene: PARN was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: PARN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PARN were set to 26116823; 25848748 Phenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 |
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| Pulmonary fibrosis familial v0.1 | NOP10 |
Arina Puzriakova gene: NOP10 was added gene: NOP10 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP10 were set to 17507419 Phenotypes for gene: NOP10 were set to Dyskeratosis congenita, autosomal recessive 1, OMIM:224230 |
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| Pulmonary fibrosis familial v0.1 | NKX2-1 |
Arina Puzriakova gene: NKX2-1 was added gene: NKX2-1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NKX2-1 were set to 19336474; 9565498; 23430038 Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978 |
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| Pulmonary fibrosis familial v0.1 | NHP2 |
Arina Puzriakova gene: NHP2 was added gene: NHP2 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHP2 were set to 31985013 Phenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2, OMIM:613987 |
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| Pulmonary fibrosis familial v0.1 | NAF1 |
Arina Puzriakova gene: NAF1 was added gene: NAF1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: NAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NAF1 were set to 27510903 Phenotypes for gene: NAF1 were set to Pulmonary fibrosis-emphysema |
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| 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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| Pulmonary fibrosis familial v0.1 | MARS |
Arina Puzriakova gene: MARS was added gene: MARS was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to 32833345; 30271085; 24103465; 25913036 Phenotypes for gene: MARS were set to Interstitial lung and liver disease, OMIM:615486 |
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| Pulmonary fibrosis familial v0.1 | HPS4 |
Arina Puzriakova gene: HPS4 was added gene: HPS4 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS4 were set to 11836498; 31415434; 20301464 Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, OMIM:614073 |
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| Pulmonary fibrosis familial v0.1 | HPS1 |
Arina Puzriakova gene: HPS1 was added gene: HPS1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 8896559; 31619213; 20301464 Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, OMIM:203300 |
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| Pulmonary fibrosis familial v0.1 | DKC1 |
Arina Puzriakova gene: DKC1 was added gene: DKC1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 21415081; 9590285; 24504062; 30868555; 23946118 Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, OMIM:305000 |
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| Pulmonary fibrosis familial v0.1 | CTC1 |
Arina Puzriakova gene: CTC1 was added gene: CTC1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 30891747; 33269665 Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 |
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| Pulmonary fibrosis familial v0.1 | CSF2RB |
Arina Puzriakova gene: CSF2RB was added gene: CSF2RB was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RB were set to 15331184; 21075760 Phenotypes for gene: CSF2RB were set to Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370 |
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| Pulmonary fibrosis familial v0.1 | CSF2RA |
Arina Puzriakova gene: CSF2RA was added gene: CSF2RA was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RA were set to 18955570; 25425184 Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770 |
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| Pulmonary fibrosis familial v0.1 | AP3B1 |
Arina Puzriakova gene: AP3B1 was added gene: AP3B1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3B1 were set to 10024875; 22009278; 20301464 Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2, OMIM:608233 |
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| Pulmonary fibrosis familial v0.1 | ACD |
Arina Puzriakova gene: ACD was added gene: ACD was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: ACD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACD were set to Dyskeratosis congenita, autosomal dominant, OMIM:6 |
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| Pulmonary fibrosis familial v0.1 | ABCA3 |
Arina Puzriakova gene: ABCA3 was added gene: ABCA3 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCA3 were set to 32238781; 15044640; 26780485; 24730976; 25553246 Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921 |
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| Pulmonary fibrosis familial v0.0 |
Arina Puzriakova Added Panel Pulmonary fibrosis familial Set list of related panels to R421 Set panel types to: GMS Rare Disease |
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