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Pneumothorax v2.0 LTBP4 Gene migrated from ENSG00000090006 to ENSG00000090006 (gene set migration)
Pneumothorax v2.0 ELN Gene migrated from ENSG00000049540 to ENSG00000049540 (gene set migration)
Pneumothorax v2.0 FBLN5 Gene migrated from ENSG00000140092 to ENSG00000140092 (gene set migration)
Pneumothorax v2.0 CBS Gene migrated from ENSG00000160200 to ENSG00000160200 (gene set migration)
Pneumothorax v2.0 TSC2 Gene migrated from ENSG00000103197 to ENSG00000103197 (gene set migration)
Pneumothorax v2.0 TSC1 Gene migrated from ENSG00000165699 to ENSG00000165699 (gene set migration)
Pneumothorax v2.0 TGFBR2 Gene migrated from ENSG00000163513 to ENSG00000163513 (gene set migration)
Pneumothorax v2.0 TGFB3 Gene migrated from ENSG00000119699 to ENSG00000119699 (gene set migration)
Pneumothorax v2.0 TGFBR1 Gene migrated from ENSG00000106799 to ENSG00000106799 (gene set migration)
Pneumothorax v2.0 SMAD3 Gene migrated from ENSG00000166949 to ENSG00000166949 (gene set migration)
Pneumothorax v2.0 SMAD2 Gene migrated from ENSG00000175387 to ENSG00000175387 (gene set migration)
Pneumothorax v2.0 CFTR Gene migrated from ENSG00000001626 to ENSG00000001626 (gene set migration)
Pneumothorax v2.0 TGFB2 Gene migrated from ENSG00000092969 to ENSG00000092969 (gene set migration)
Pneumothorax v2.0 SERPINA1 Gene migrated from ENSG00000197249 to ENSG00000197249 (gene set migration)
Pneumothorax v2.0 FLCN Gene migrated from ENSG00000154803 to ENSG00000154803 (gene set migration)
Pneumothorax v2.0 FBN1 Gene migrated from ENSG00000166147 to ENSG00000166147 (gene set migration)
Pneumothorax v2.0 COL3A1 Gene migrated from ENSG00000168542 to ENSG00000168542 (gene set migration)
Pneumothorax v2.0 IPO8 Gene migrated from ENSG00000133704 to ENSG00000133704 (gene set migration)
Pneumothorax v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.1
Pneumothorax v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
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