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Pneumothorax v1.0 Bryony Thompson promoted panel to version 1.0
Pneumothorax v0.21 IPO8 Bryony Thompson Classified gene: IPO8 as Green List (high evidence)
Pneumothorax v0.21 IPO8 Bryony Thompson Gene: ipo8 has been classified as Green List (High Evidence).
Pneumothorax v0.20 IPO8 Bryony Thompson gene: IPO8 was added
gene: IPO8 was added to Pneumothorax. Sources: Expert list
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to 20301312
Phenotypes for gene: IPO8 were set to Loeys-Dietz syndrome MONDO:0018954
Review for gene: IPO8 was set to GREEN
gene: IPO8 was marked as current diagnostic
Added comment: Included on this panel because spontaneous pneumothorax can be a feature of LDS.
Sources: Expert list
Pneumothorax v0.19 TGFB3 Bryony Thompson Classified gene: TGFB3 as Green List (high evidence)
Pneumothorax v0.19 TGFB3 Bryony Thompson Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.
Pneumothorax v0.19 TGFB3 Bryony Thompson Gene: tgfb3 has been classified as Green List (High Evidence).
Pneumothorax v0.18 TGFB3 Bryony Thompson Publications for gene: TGFB3 were set to 15591413; 25006744; 25835445; 24577266; 26493799; 23161884
Pneumothorax v0.17 TGFBR1 Bryony Thompson Publications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884
Pneumothorax v0.16 TGFBR1 Bryony Thompson Classified gene: TGFBR1 as Green List (high evidence)
Pneumothorax v0.16 TGFBR1 Bryony Thompson Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.
Pneumothorax v0.16 TGFBR1 Bryony Thompson Gene: tgfbr1 has been classified as Green List (High Evidence).
Pneumothorax v0.15 SMAD3 Bryony Thompson Marked gene: SMAD3 as ready
Pneumothorax v0.15 SMAD3 Bryony Thompson Gene: smad3 has been classified as Green List (High Evidence).
Pneumothorax v0.15 SMAD3 Bryony Thompson Publications for gene: SMAD3 were set to 25006744; 26493799; 15591413; 23161884
Pneumothorax v0.14 SMAD3 Bryony Thompson Classified gene: SMAD3 as Green List (high evidence)
Pneumothorax v0.14 SMAD3 Bryony Thompson Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.
Pneumothorax v0.14 SMAD3 Bryony Thompson Gene: smad3 has been classified as Green List (High Evidence).
Pneumothorax v0.13 SMAD2 Bryony Thompson Publications for gene: SMAD2 were set to 29392890; 26247899; 29707331
Pneumothorax v0.12 SMAD2 Bryony Thompson Classified gene: SMAD2 as Green List (high evidence)
Pneumothorax v0.12 SMAD2 Bryony Thompson Added comment: Comment on list classification: Included on this panel because spontaneous pneumothorax can be a feature of LDS.
Pneumothorax v0.12 SMAD2 Bryony Thompson Gene: smad2 has been classified as Green List (High Evidence).
Pneumothorax v0.11 SMAD3 Sangavi Sivagnanasundram reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29392890, 26247899; Phenotypes: Loeys-Dietz syndrome 3 MIM#613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 SMAD2 Sangavi Sivagnanasundram reviewed gene: SMAD2: Rating: RED; Mode of pathogenicity: None; Publications: 26247899; Phenotypes: Loeys-Dietz syndrome 6 MONDO:0030500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 TSC2 Sangavi Sivagnanasundram reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36117164, 37800821; Phenotypes: lymphangioleiomyomatosis MONDO:0011705, tuberous sclerosis 2 MONDO:0013199; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 TSC1 Sangavi Sivagnanasundram edited their review of gene: TSC1: Changed rating: AMBER
Pneumothorax v0.11 TSC1 Sangavi Sivagnanasundram changed review comment from: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax.
The reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis.
There are many reported individuals with a diagnosis of LAM has been reported with pneumothorax. ; to: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax.
The reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis.
There are many reported individuals with a diagnosis of LAM has been reported with pneumothorax.

This gene would be green when curated against LAM however red when curated against TSC as pneumothorax is a secondary feature.
Pneumothorax v0.11 TSC1 Sangavi Sivagnanasundram edited their review of gene: TSC1: Changed rating: GREEN
Pneumothorax v0.11 TSC1 Sangavi Sivagnanasundram changed review comment from: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax.
The reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause.; to: Lymphangioleiomyomatosis (LAM) is the primary pulmonary manifestation of tuberous sclerosis. LAM can cause other pulmonary phenotypes including pneumothorax.
The reported cases in the literature have reported a pneumothorax phenotype secondary to LAM and not as a primary cause when looking at tuberous sclerosis.
There are many reported individuals with a diagnosis of LAM has been reported with pneumothorax.
Pneumothorax v0.11 TSC1 Sangavi Sivagnanasundram edited their review of gene: TSC1: Changed rating: AMBER
Pneumothorax v0.11 TSC1 Sangavi Sivagnanasundram reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: None; Publications: 27226234, 23729718, 19318672; Phenotypes: tuberous sclerosis 1 MONDO:0008612, lung lymphangioleiomyomatosis MONDO:0006277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 TGFB2 Sangavi Sivagnanasundram reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22772371, 29392890; Phenotypes: Loeys-Dietz syndrome 4 MONDO:0013897; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 TGFBR2 Sangavi Sivagnanasundram reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22488992, 26493799; Phenotypes: Loeys-Dietz syndrome 2 MONDO:0012427; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 TGFB2 Sangavi Sivagnanasundram Deleted their review
Pneumothorax v0.11 TGFB2 Sangavi Sivagnanasundram Deleted their comment
Pneumothorax v0.11 TGFB3 Sangavi Sivagnanasundram reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: 25835445, 31898322; Phenotypes: Loeys-Dietz syndrome MONDO:0018954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 TGFBR1 Sangavi Sivagnanasundram reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: 16799921, 25835445; Phenotypes: Loeys-Dietz syndrome MONDO:0018954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 TGFB2 Sangavi Sivagnanasundram reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26493799, 22488992, 24577266; Phenotypes: Loeys-Dietz syndrome 4 MONDO:0013897; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 SERPINA1 Sangavi Sivagnanasundram reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38633947, 20301692; Phenotypes: alpha 1-antitrypsin deficiency MONDO:0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pneumothorax v0.11 FLCN Sangavi Sivagnanasundram reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301695, 22146830; Phenotypes: Obsolete Birt-Hogg-Dube syndrome MONDO:0007607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 FBN1 Sangavi Sivagnanasundram reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301510, 12598898, 22772371, 34795948; Phenotypes: Marfan syndrome MONDO:0007947; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 COL3A1 Sangavi Sivagnanasundram reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20301667, 24591672, 22610159, 19420820; Phenotypes: Ehlers-Danlos syndrome, vascular type MONDO:0017314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.11 Bryony Thompson Panel status changed from internal to public
Pneumothorax v0.10 CFTR Bryony Thompson Marked gene: CFTR as ready
Pneumothorax v0.10 CFTR Bryony Thompson Gene: cftr has been classified as Green List (High Evidence).
Pneumothorax v0.10 CFTR Bryony Thompson Classified gene: CFTR as Green List (high evidence)
Pneumothorax v0.10 CFTR Bryony Thompson Gene: cftr has been classified as Green List (High Evidence).
Pneumothorax v0.9 CFTR Bryony Thompson gene: CFTR was added
gene: CFTR was added to Pneumothorax. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFTR were set to 30681372; 17056865; 16100160; 2919902
Phenotypes for gene: CFTR were set to Cystic fibrosis MONDO:0009061
Review for gene: CFTR was set to GREEN
gene: CFTR was marked as current diagnostic
Added comment: Has been reported as one of the lung finds of CF. The incidence of pneumothorax among patients with CF has been reported as ~2% in children and ~3% in all ages.
Sources: Expert list
Pneumothorax v0.8 FBLN5 Bryony Thompson Marked gene: FBLN5 as ready
Pneumothorax v0.8 FBLN5 Bryony Thompson Gene: fbln5 has been classified as Red List (Low Evidence).
Pneumothorax v0.8 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Pneumothorax. Sources: Other
Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBLN5 were set to 21152794; 30681372
Phenotypes for gene: FBLN5 were set to cutis laxa MONDO:0016175
Review for gene: FBLN5 was set to RED
Added comment: Spontaneous pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single cutis laxa case with biallelic variants and a previous history of spontaneous pneumothorax has been reported.
Sources: Other
Pneumothorax v0.7 LTBP4 Bryony Thompson Marked gene: LTBP4 as ready
Pneumothorax v0.7 LTBP4 Bryony Thompson Gene: ltbp4 has been classified as Red List (Low Evidence).
Pneumothorax v0.7 LTBP4 Bryony Thompson gene: LTBP4 was added
gene: LTBP4 was added to Pneumothorax. Sources: Other
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP4 were set to 30681372; 35921570
Phenotypes for gene: LTBP4 were set to Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170
Review for gene: LTBP4 was set to RED
Added comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single case of pneumothorax in a family with ARCL and biallelic variants has been reported in the literature.
Sources: Other
Pneumothorax v0.6 ELN Bryony Thompson Marked gene: ELN as ready
Pneumothorax v0.6 ELN Bryony Thompson Gene: eln has been classified as Red List (Low Evidence).
Pneumothorax v0.6 ELN Bryony Thompson gene: ELN was added
gene: ELN was added to Pneumothorax. Sources: Other
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELN were set to 30416599; 30681372
Phenotypes for gene: ELN were set to cutis laxa, autosomal dominant 1 MONDO:0007411
Mode of pathogenicity for gene: ELN was set to Other
Review for gene: ELN was set to RED
Added comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as presenting feature. A single case was reported with the presentation of bilateral pneumothorax and mentioned a genetic diagnosis of ADCL, which implies an ELN pathogenic variant.
Sources: Other
Pneumothorax v0.5 CBS Bryony Thompson Marked gene: CBS as ready
Pneumothorax v0.5 CBS Bryony Thompson Gene: cbs has been classified as Amber List (Moderate Evidence).
Pneumothorax v0.5 CBS Bryony Thompson Classified gene: CBS as Amber List (moderate evidence)
Pneumothorax v0.5 CBS Bryony Thompson Gene: cbs has been classified as Amber List (Moderate Evidence).
Pneumothorax v0.4 CBS Bryony Thompson gene: CBS was added
gene: CBS was added to Pneumothorax. Sources: Expert list
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 2333882; 27229674; 9427154; 30681372
Phenotypes for gene: CBS were set to Classic homocystinuria MONDO:0009352
Review for gene: CBS was set to AMBER
Added comment: The prevalence of spontaneous pneumothorax as a feature of homocystinuria is unknown. It appears to be very rare. There are 3 unrelated patients reported in the literature, one presented with spontaneous pneumothorax.
Sources: Expert list
Pneumothorax v0.3 Zornitza Stark List of related panels changed from to Pneumothorax; HP:0002107
Pneumothorax v0.1 Bryony Thompson HPO terms changed from to Pneumothorax, HP:0002107
Panel types changed to Royal Melbourne Hospital; Rare Disease
Pneumothorax v0.0 SMAD3 Bryony Thompson gene: SMAD3 was added
gene: SMAD3 was added to Pneumothorax. Sources: Expert list,Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD3 were set to 25006744; 26493799; 15591413; 23161884
Phenotypes for gene: SMAD3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795
Pneumothorax v0.0 SMAD2 Bryony Thompson gene: SMAD2 was added
gene: SMAD2 was added to Pneumothorax. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD2 were set to 29392890; 26247899; 29707331
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome,MONDO:0018954
Mode of pathogenicity for gene: SMAD2 was set to Other
Pneumothorax v0.0 TSC2 Bryony Thompson gene: TSC2 was added
gene: TSC2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSC2 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001
Phenotypes for gene: TSC2 were set to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254
Pneumothorax v0.0 TSC1 Bryony Thompson gene: TSC1 was added
gene: TSC1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSC1 were set to 10069705; 19420210; 23729718; 20167846; 19318672; 27171001
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1, OMIM:191100; Lymphangioleiomyomatosis, OMIM:606690
Pneumothorax v0.0 TGFBR2 Bryony Thompson gene: TGFBR2 was added
gene: TGFBR2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR2 were set to 25006744; 26493799; 15591413; 23161884
Phenotypes for gene: TGFBR2 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax v0.0 TGFBR1 Bryony Thompson gene: TGFBR1 was added
gene: TGFBR1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR1 were set to 16799921; 15591413; 25006744; 26493799; 23161884
Phenotypes for gene: TGFBR1 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax v0.0 TGFB3 Bryony Thompson gene: TGFB3 was added
gene: TGFB3 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFB3 were set to 15591413; 25006744; 25835445; 24577266; 26493799; 23161884
Phenotypes for gene: TGFB3 were set to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582
Pneumothorax v0.0 TGFB2 Bryony Thompson gene: TGFB2 was added
gene: TGFB2 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFB2 were set to 25006744; 26493799; 15591413; 23161884
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, OMIM:614816; Pulmonary emphysema, MONDO:0004849
Pneumothorax v0.0 SERPINA1 Bryony Thompson gene: SERPINA1 was added
gene: SERPINA1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA1 were set to 27229674; 22215832; 18619132; 22544422
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490; Emphysema due to AAT deficiency, OMIM:613490
Pneumothorax v0.0 FLCN Bryony Thompson gene: FLCN was added
gene: FLCN was added to Pneumothorax. Sources: Literature,Eligibility statement prior genetic testing,UKGTN,Expert Review Green,NHS GMS,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to 19483054; 15852235; 26928018; 15657874; 21550484; 15805188; 12204536
Phenotypes for gene: FLCN were set to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150
Pneumothorax v0.0 FBN1 Bryony Thompson gene: FBN1 was added
gene: FBN1 was added to Pneumothorax. Sources: Eligibility statement prior genetic testing,Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBN1 were set to 12598898; 1864149; 11786720; 2595640; 15161620; 25765122
Phenotypes for gene: FBN1 were set to Marfan syndrome, OMIM:154700
Pneumothorax v0.0 COL3A1 Bryony Thompson gene: COL3A1 was added
gene: COL3A1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL3A1 were set to 25940258; 9147885; 7369469; 26666608
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Pneumothorax v0.0 Bryony Thompson Added panel Pneumothorax