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Pneumothorax - familial v3.3 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
Pneumothorax - familial v3.2 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Pneumothorax - familial v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
Pneumothorax - familial v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Pneumothorax - familial v2.40 COL3A1 Sarah Leigh Tag Q3_22_MOI was removed from gene: COL3A1.
Tag Q3_22_expert_review was removed from gene: COL3A1.
Pneumothorax - familial v2.40 COL3A1 Sarah Leigh commented on gene: COL3A1
Pneumothorax - familial v2.39 COL3A1 Sarah Leigh Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pneumothorax - familial v2.38 COL3A1 Eleanor Williams Tag Q3_22_MOI tag was added to gene: COL3A1.
Tag Q3_22_expert_review tag was added to gene: COL3A1.
Pneumothorax - familial v2.38 COL3A1 Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be considered for changing to Both mono and biallelic following GMS review.
Pneumothorax - familial v2.38 COL3A1 Eleanor Williams Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pneumothorax - familial v2.37 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 4, OMIM:614816
Pneumothorax - familial v2.36 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582
Pneumothorax - familial v2.35 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax - familial v2.34 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax - familial v2.33 SMAD3 Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795
Pneumothorax - familial v2.32 SMAD2 Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome,MONDO:0018954
Pneumothorax - familial v2.31 TSC2 Ivone Leong Phenotypes for gene: TSC2 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 2, 613254 to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254
Pneumothorax - familial v2.30 TSC1 Ivone Leong Phenotypes for gene: TSC1 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 1, 191100 to Lymphangioleiomyomatosis, OMIM:606690; Tuberous sclerosis-1, OMIM:191100
Pneumothorax - familial v2.29 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 2, 610168 to Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax - familial v2.28 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 1, 609192 to Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax - familial v2.27 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582 to Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582
Pneumothorax - familial v2.26 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 4, 614816 to Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816
Pneumothorax - familial v2.25 SERPINA1 Ivone Leong Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency; Emphysema/cirrhosis due to AAT deficiency, 613490 to Emphysema due to AAT deficiency, OMIM:613490; Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490
Pneumothorax - familial v2.24 FLCN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Primary Spontaneous Pneumothorax, 173600;Birt-Hogg-Dube Syndrome, 135150;Birt-Hogg-Dube syndrome;Spontaneous Pneumothorax;Birt-Hogg-Dube Syndrome
Pneumothorax - familial v2.24 FLCN Ivone Leong Phenotypes for gene: FLCN were changed from Primary Spontaneous Pneumothorax, 173600; Birt-Hogg-Dube Syndrome, 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150
Pneumothorax - familial v2.23 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome, 154700 to Marfan syndrome, OMIM:154700
Pneumothorax - familial v2.22 COL3A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, type IV;Ehlers-Danlos syndrome, vascular type, 130050
Pneumothorax - familial v2.22 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos Syndrome, type IV; Ehlers-Danlos syndrome, vascular type, 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Pneumothorax - familial v2.21 COL3A1 Ivone Leong Publications for gene: COL3A1 were set to 26666608; 25940258; 9147885 (review); 7369469
Pneumothorax - familial v2.20 Ellen McDonagh Panel version has been signed off
Pneumothorax - familial v2.19 Ellen McDonagh Panel version has been signed off
Pneumothorax - familial v2.18 Ellen McDonagh Panel version has been signed off
Pneumothorax - familial v2.16 COL3A1 Matthew Edwards changed review comment from: On CGGL Royal Brompton pneumothorax diagnostic panel. Pneumrpthorax is a minor diagnostic criteria in vEDS, therefore, although unlikely to be the presenting feature, COL3A1 appropriate for inclusion here.; to: On CGGL Royal Brompton pneumothorax diagnostic panel. Pneumothorax is a minor diagnostic criteria in vEDS, therefore, although unlikely to be the presenting feature, COL3A1 appropriate for inclusion here.
Pneumothorax - familial v2.16 FBN1 Louise Daugherty Phenotypes for gene: FBN1 were changed from Marfan syndrome to Marfan syndrome, 154700
Pneumothorax - familial v2.15 FBN1 Louise Daugherty Added comment: Comment on publications: added publication suggested by expert reviewer
Pneumothorax - familial v2.15 FBN1 Louise Daugherty Publications for gene: FBN1 were set to 12598898; 15161620; 11786720; 1864149; 2595640
Pneumothorax - familial v2.14 FLCN Louise Daugherty Phenotypes for gene: FLCN were changed from Primary Spontaneous Pneumothorax; OMIM 173600; Birt-Hogg-Dube Syndrome; OMIM 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome to Primary Spontaneous Pneumothorax, 173600; Birt-Hogg-Dube Syndrome, 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome
Pneumothorax - familial v2.13 FLCN Louise Daugherty Added comment: Comment on publications: added publication suggested by expert reviewer
Pneumothorax - familial v2.13 FLCN Louise Daugherty Publications for gene: FLCN were set to 21550484; 19483054; 15852235; 15805188; 15657874; 12204536; 26928018
Pneumothorax - familial v2.12 SERPINA1 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by expert reviewer
Pneumothorax - familial v2.12 SERPINA1 Louise Daugherty Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency to Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency; Emphysema/cirrhosis due to AAT deficiency, 613490
Pneumothorax - familial v2.11 TGFB2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by expert reviewer
Pneumothorax - familial v2.11 TGFB2 Louise Daugherty Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 4, 614816 to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 4, 614816
Pneumothorax - familial v2.10 TGFB2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by expert reviewer
Pneumothorax - familial v2.10 TGFB2 Louise Daugherty Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 4, 614816
Pneumothorax - familial v2.9 TGFB3 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by expert reviewer
Pneumothorax - familial v2.9 TGFB3 Louise Daugherty Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582 to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582
Pneumothorax - familial v2.8 TGFB3 Louise Daugherty Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582
Pneumothorax - familial v2.7 TGFB3 Louise Daugherty Added comment: Comment on publications: added publications suggested by expert reviewer
Pneumothorax - familial v2.7 TGFB3 Louise Daugherty Publications for gene: TGFB3 were set to 26493799; 15591413; 25006744; 23161884
Pneumothorax - familial v2.6 TGFBR1 Louise Daugherty Added comment: Comment on publications: added publication suggested by expert reviewer
Pneumothorax - familial v2.6 TGFBR1 Louise Daugherty Publications for gene: TGFBR1 were set to 26493799; 15591413; 25006744; 23161884
Pneumothorax - familial v2.5 TGFBR1 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by expert reviewer
Pneumothorax - familial v2.5 TGFBR1 Louise Daugherty Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 1, 609192
Pneumothorax - familial v2.4 TGFBR2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by expert reviewer
Pneumothorax - familial v2.4 TGFBR2 Louise Daugherty Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 2, 610168
Pneumothorax - familial v2.3 TSC1 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by expert reviewer
Pneumothorax - familial v2.3 TSC1 Louise Daugherty Phenotypes for gene: TSC1 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis to Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 1, 191100
Pneumothorax - familial v2.2 TSC2 Louise Daugherty Phenotypes for gene: TSC2 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis to Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 2, 613254
Pneumothorax - familial v2.1 SMAD3 Louise Daugherty Added comment: Comment on phenotypes: added phenotype suggested by expert reviewer
Pneumothorax - familial v2.1 SMAD3 Louise Daugherty Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema to Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795
Pneumothorax - familial v2.0 SMAD3 Matthew Edwards edited their review of gene: SMAD3: Changed rating: AMBER
Pneumothorax - familial v2.0 SMAD3 Matthew Edwards reviewed gene: SMAD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 613795 Loeys-Dietz syndrome type 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Pneumothorax - familial v2.0 TSC2 Matthew Edwards reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 613254 Tuberous sclerosis-2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Pneumothorax - familial v2.0 TSC1 Matthew Edwards reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23729718, 19318672; Phenotypes: OMIM 606690 Lymphangioleiomyomatosis (LAM), 191100 Tuberous sclerosis-1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Pneumothorax - familial v2.0 TGFBR2 Matthew Edwards reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: 610168 Loeys-Dietz syndrome type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Pneumothorax - familial v2.0 TGFBR1 Matthew Edwards reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16799921; Phenotypes: OMIM: 609192 Loeys-Dietz syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Pneumothorax - familial v2.0 TGFB3 Matthew Edwards reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577266, 25835445; Phenotypes: OMIM: 615582 Loeys-Dietz syndrome 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Pneumothorax - familial v2.0 TGFB2 Matthew Edwards changed review comment from: On CGGL Royal Brompton panel. Several pathogenic variants (including CNVs) reported in LDS, with extensive segregation. Pneumothorax can be a feature of LDS, potentially repsenting feature, therefore appropriate for this apenl as well as FTAAD panel.; to: On CGGL Royal Brompton panel. Several pathogenic variants (including CNVs) reported in LDS, with extensive segregation. Pneumothorax can be a feature of LDS, potentially repsenting feature, therefore appropriate for this panel as well as FTAAD panel.
Pneumothorax - familial v2.0 TGFB2 Matthew Edwards reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26493799; Phenotypes: OMIM 614816 Loeys-Dietz syndrome (LDS) 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Pneumothorax - familial v2.0 SERPINA1 Matthew Edwards reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22215832, 18619132; Phenotypes: OMIM 613490 Emphysema/cirrhosis due to AAT deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Pneumothorax - familial v2.0 FLCN Matthew Edwards reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15852235, 19483054, 12204536; Phenotypes: OMIM 173600 Pneumothorax, primary spontaneous, 135150 Birt-Hogg-Dube syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Pneumothorax - familial v2.0 FBN1 Matthew Edwards reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2595640, 12598898, 25765122; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Pneumothorax - familial v2.0 Louise Daugherty promoted panel to version 2.0
Pneumothorax - familial v1.19 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Pneumothorax - familial v1.18 SMAD3 Louise Daugherty commented on gene: SMAD3: October 2019: Gene flagged up for further discussion by Respiratory Test Group regarding the inclusion of genes associated with Loeys-Dietz syndrome and classical EDS. However, no additional feedback was received, so gene will not be upgraded to Green as inclusion on this panel remains unclear. COL5A1, SMAD2 and SMAD3 are rated Green on the R101 Ehlers Danlos syndromes panel https://panelapp.genomicsengland.co.uk/panels/53/
Pneumothorax - familial v1.18 SMAD2 Louise Daugherty commented on gene: SMAD2: October 2019: Gene flagged up for further discussion by Respiratory Test Group regarding the inclusion of genes associated with Loeys-Dietz syndrome and classical EDS. However, no additional feedback was received, so gene will not be upgraded to Green as inclusion on this panel remains unclear. COL5A1, SMAD2 and SMAD3 are rated Green on the R101 Ehlers Danlos syndromes panel https://panelapp.genomicsengland.co.uk/panels/53/
Pneumothorax - familial v1.18 COL5A1 Louise Daugherty commented on gene: COL5A1: October 2019: Gene flagged up for further discussion by Respiratory Test Group regarding the inclusion of genes associated with Loeys-Dietz syndrome and classical EDS. However, no additional feedback was received, so gene will not be upgraded to Green as inclusion on this panel remains unclear. COL5A1, SMAD2 and SMAD3 are rated Green on the R101 Ehlers Danlos syndromes panel https://panelapp.genomicsengland.co.uk/panels/53/
Pneumothorax - familial v1.18 COL3A1 Louise Daugherty Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos Syndrome, type IV to Ehlers-Danlos Syndrome, type IV; Ehlers-Danlos syndrome, vascular type, 130050
Pneumothorax - familial v1.17 COL3A1 Matthew Edwards reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM 130050 Ehlers-Danlos syndrome, vascular type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Pneumothorax - familial v1.17 Louise Daugherty List of related panels changed from Familial Pneumothorax; Familial Primary Spontaneous Pneumothorax to Familial Pneumothorax; Familial Primary Spontaneous Pneumothorax; R190
Pneumothorax - familial v1.15 SMAD2 Louise Daugherty Added comment: Comment on phenotypes: added phenotype as suggested by clinical team
Pneumothorax - familial v1.15 SMAD2 Louise Daugherty Phenotypes for gene: SMAD2 were changed from to Loeys-Dietz syndrome
Pneumothorax - familial v1.14 SMAD2 Louise Daugherty Added comment: Comment on publications: Added publications suggested by expert clinical review that support Loeys-Dietz syndrome; pneumothorax a common feature.
Pneumothorax - familial v1.14 SMAD2 Louise Daugherty Publications for gene: SMAD2 were set to
Pneumothorax - familial v1.13 SMAD2 Louise Daugherty Mode of pathogenicity for gene: SMAD2 was changed from to Other
Pneumothorax - familial v1.12 SMAD2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from review
Pneumothorax - familial v1.12 SMAD2 Louise Daugherty Mode of inheritance for gene: SMAD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pneumothorax - familial v1.11 SMAD2 Louise Daugherty Classified gene: SMAD2 as Amber List (moderate evidence)
Pneumothorax - familial v1.11 SMAD2 Louise Daugherty Added comment: Comment on list classification: changed to Amber from Red - awaiting confirmation from GMS Respiratory Specialist Test Group- is pneumothorax part of the phenotype for LDS caused by variants in SMAD2
Pneumothorax - familial v1.11 SMAD2 Louise Daugherty Gene: smad2 has been classified as Amber List (Moderate Evidence).
Pneumothorax - familial v1.10 TSC2 Louise Daugherty commented on gene: TSC2: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Agreed Green rating- agreed appropriate for panel due to pneumothorax due to lymphangioleiomyomatosis.
Pneumothorax - familial v1.10 TSC1 Louise Daugherty commented on gene: TSC1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Agreed Green rating- agreed appropriate for panel due to pneumothorax due to lymphangioleiomyomatosis
Pneumothorax - familial v1.10 SERPINA1 Louise Daugherty commented on gene: SERPINA1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Agreed Green rating- suggest do not report carrier status.
Pneumothorax - familial v1.10 COL5A1 Louise Daugherty edited their review of gene: COL5A1: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Classical EDS – does this need to be on this panel as well as EDS panel (R101 Ehlers Danlos syndrome with a likely monogenic cause) or would it be more likely that patients with an EDS phenotype would be tested under that indication – Specialist group to contact Glenda Sobie for her opinion.; Changed rating: AMBER
Pneumothorax - familial v1.10 SMAD2 Louise Daugherty edited their review of gene: SMAD2: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Loeys-Dietz syndrome - is pneumothorax part of the phenotype for LDS caused by variants in these genes? Specialist group to contact Stefan Marciniak/Bart Loeys to confirm this; Changed rating: AMBER
Pneumothorax - familial v1.10 SMAD3 Louise Daugherty edited their review of gene: SMAD3: Added comment: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: Loeys-Dietz syndrome - is pneumothorax part of the phenotype for LDS caused by variants in these genes? Specialist group to contact Stefan Marciniak/Bart Loeys to confirm this; Changed rating: AMBER
Pneumothorax - familial v1.10 SMAD2 Helen Brittain reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: Other; Publications: 29707331, 26247899, 29392890; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pneumothorax - familial v1.9 SMAD2 Louise Daugherty reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TSC2 Louise Daugherty reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TSC1 Louise Daugherty reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TGFBR2 Louise Daugherty reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TGFBR1 Louise Daugherty reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TGFB3 Louise Daugherty reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 TGFB2 Louise Daugherty reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 SMAD3 Louise Daugherty reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 SLC25A24 Louise Daugherty reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 SERPINA1 Louise Daugherty reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 PRKG1 Louise Daugherty reviewed gene: PRKG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 MYLK Louise Daugherty reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 MYH11 Louise Daugherty reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 MFAP5 Louise Daugherty reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 LOX Louise Daugherty reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 HRAS Louise Daugherty reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 HLA-DRB1 Louise Daugherty reviewed gene: HLA-DRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 FOXE3 Louise Daugherty reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 FLCN Louise Daugherty reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 FBN1 Louise Daugherty reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 ELN Louise Daugherty reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 COL5A1 Louise Daugherty reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 COL3A1 Louise Daugherty reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 CHST14 Louise Daugherty reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 BTNL2 Louise Daugherty reviewed gene: BTNL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 ADAMTS2 Louise Daugherty reviewed gene: ADAMTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.9 ACTA2 Louise Daugherty reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.8 SMAD2 Louise Daugherty gene: SMAD2 was added
gene: SMAD2 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: SMAD2 was set to
Pneumothorax - familial v1.8 TSC2 Louise Daugherty Source NHS GMS was added to TSC2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TSC1 Louise Daugherty Source NHS GMS was added to TSC1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TGFBR2 Louise Daugherty Source NHS GMS was added to TGFBR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TGFBR1 Louise Daugherty Source NHS GMS was added to TGFBR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TGFB3 Louise Daugherty Source NHS GMS was added to TGFB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 TGFB2 Louise Daugherty Source NHS GMS was added to TGFB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 SMAD3 Louise Daugherty Source NHS GMS was added to SMAD3.
Pneumothorax - familial v1.8 SLC25A24 Louise Daugherty gene: SLC25A24 was added
gene: SLC25A24 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: SLC25A24 was set to
Pneumothorax - familial v1.8 SERPINA1 Louise Daugherty Source NHS GMS was added to SERPINA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 PRKG1 Louise Daugherty gene: PRKG1 was added
gene: PRKG1 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: PRKG1 was set to
Pneumothorax - familial v1.8 MYLK Louise Daugherty gene: MYLK was added
gene: MYLK was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: MYLK was set to
Pneumothorax - familial v1.8 MYH11 Louise Daugherty gene: MYH11 was added
gene: MYH11 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: MYH11 was set to
Pneumothorax - familial v1.8 MFAP5 Louise Daugherty gene: MFAP5 was added
gene: MFAP5 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: MFAP5 was set to
Pneumothorax - familial v1.8 LOX Louise Daugherty gene: LOX was added
gene: LOX was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: LOX was set to
Pneumothorax - familial v1.8 HRAS Louise Daugherty gene: HRAS was added
gene: HRAS was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: HRAS was set to
Pneumothorax - familial v1.8 HLA-DRB1 Louise Daugherty gene: HLA-DRB1 was added
gene: HLA-DRB1 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: HLA-DRB1 was set to
Pneumothorax - familial v1.8 FOXE3 Louise Daugherty gene: FOXE3 was added
gene: FOXE3 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: FOXE3 was set to
Pneumothorax - familial v1.8 FLCN Louise Daugherty Source NHS GMS was added to FLCN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 FBN1 Louise Daugherty Source NHS GMS was added to FBN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 ELN Louise Daugherty Source NHS GMS was added to ELN.
Pneumothorax - familial v1.8 COL5A1 Louise Daugherty gene: COL5A1 was added
gene: COL5A1 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: COL5A1 was set to
Pneumothorax - familial v1.8 COL3A1 Louise Daugherty Source NHS GMS was added to COL3A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial v1.8 CHST14 Louise Daugherty gene: CHST14 was added
gene: CHST14 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: CHST14 was set to
Pneumothorax - familial v1.8 BTNL2 Louise Daugherty gene: BTNL2 was added
gene: BTNL2 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: BTNL2 was set to
Pneumothorax - familial v1.8 ADAMTS2 Louise Daugherty gene: ADAMTS2 was added
gene: ADAMTS2 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: ADAMTS2 was set to
Pneumothorax - familial v1.8 ACTA2 Louise Daugherty gene: ACTA2 was added
gene: ACTA2 was added to Pneumothorax - familial. Sources: NHS GMS
Mode of inheritance for gene: ACTA2 was set to
Pneumothorax - familial v1.7 Ellen McDonagh Panel name changed from Familial Pneumothorax to Pneumothorax - familial
List of related panels changed from Familial Primary Spontaneous Pneumothorax to Familial Pneumothorax; Familial Primary Spontaneous Pneumothorax
Panel types changed to Rare Disease 100K; GMS Rare Disease
Pneumothorax - familial SERPINA1 Ellen McDonagh marked SERPINA1 as ready
Pneumothorax - familial SERPINA1 Ellen McDonagh classified SERPINA1 as green
Pneumothorax - familial SERPINA1 Ellen McDonagh commented on SERPINA1
Pneumothorax - familial SERPINA1 Benjamin Raby reviewed SERPINA1
Pneumothorax - familial Olivia Niblock promoted panel to version 1
Pneumothorax - familial TGFBR1 Olivia Niblock classified TGFBR1 as green
Pneumothorax - familial TGFBR2 Olivia Niblock marked TGFBR2 as ready
Pneumothorax - familial TGFBR2 Olivia Niblock classified TGFBR2 as green
Pneumothorax - familial TGFBR2 Olivia Niblock classified TGFBR2 as red
Pneumothorax - familial TGFBR2 Olivia Niblock commented on TGFBR2
Pneumothorax - familial TGFB3 Olivia Niblock marked TGFB3 as ready
Pneumothorax - familial TGFB3 Olivia Niblock classified TGFB3 as green
Pneumothorax - familial TGFB3 Olivia Niblock commented on TGFB3
Pneumothorax - familial TGFB2 Olivia Niblock marked TGFB2 as ready
Pneumothorax - familial TGFB2 Olivia Niblock classified TGFB2 as green
Pneumothorax - familial TGFB2 Olivia Niblock commented on TGFB2
Pneumothorax - familial ALDH18A1 Olivia Niblock marked ALDH18A1 as ready
Pneumothorax - familial TGFBR1 Olivia Niblock marked TGFBR1 as ready
Pneumothorax - familial SMAD3 Olivia Niblock marked SMAD3 as ready
Pneumothorax - familial TGFBR1 Olivia Niblock classified TGFBR1 as amber
Pneumothorax - familial TGFBR1 Olivia Niblock commented on TGFBR1
Pneumothorax - familial SMAD3 Olivia Niblock classified SMAD3 as amber
Pneumothorax - familial SMAD3 Olivia Niblock commented on SMAD3
Pneumothorax - familial SERPINA1 Olivia Niblock marked SERPINA1 as ready
Pneumothorax - familial TSC1 Olivia Niblock marked TSC1 as ready
Pneumothorax - familial TSC2 Olivia Niblock marked TSC2 as ready
Pneumothorax - familial TSC2 Olivia Niblock classified TSC2 as green
Pneumothorax - familial TSC2 Olivia Niblock commented on TSC2
Pneumothorax - familial TSC1 Olivia Niblock classified TSC1 as green
Pneumothorax - familial TSC1 Olivia Niblock commented on TSC1
Pneumothorax - familial FBN1 Olivia Niblock marked FBN1 as ready
Pneumothorax - familial PYCR1 Olivia Niblock marked PYCR1 as ready
Pneumothorax - familial MTHFR Olivia Niblock marked MTHFR as ready
Pneumothorax - familial LTBP4 Olivia Niblock marked LTBP4 as ready
Pneumothorax - familial FBN1 Olivia Niblock classified FBN1 as green
Pneumothorax - familial FBN1 Olivia Niblock commented on FBN1
Pneumothorax - familial FBLN5 Olivia Niblock marked FBLN5 as ready
Pneumothorax - familial ELN Olivia Niblock marked ELN as ready
Pneumothorax - familial EFEMP2 Olivia Niblock marked EFEMP2 as ready
Pneumothorax - familial COL3A1 Olivia Niblock marked COL3A1 as ready
Pneumothorax - familial COL3A1 Olivia Niblock classified COL3A1 as green
Pneumothorax - familial COL3A1 Olivia Niblock commented on COL3A1
Pneumothorax - familial ATP7A Olivia Niblock marked ATP7A as ready
Pneumothorax - familial ATP6V0A2 Olivia Niblock marked ATP6V0A2 as ready
Pneumothorax - familial ATP6V0A2 Olivia Niblock commented on ATP6V0A2
Pneumothorax - familial ALDH18A1 Olivia Niblock commented on ALDH18A1
Pneumothorax - familial FLCN Olivia Niblock marked FLCN as ready
Pneumothorax - familial TGFBR2 Stefan Marciniak edited their review of TGFBR2
Pneumothorax - familial TGFBR1 Stefan Marciniak edited their review of TGFBR1
Pneumothorax - familial TGFB3 Stefan Marciniak edited their review of TGFB3
Pneumothorax - familial TGFB2 Stefan Marciniak edited their review of TGFB2
Pneumothorax - familial SMAD3 Stefan Marciniak edited their review of SMAD3
Pneumothorax - familial COL3A1 Stefan Marciniak edited their review of COL3A1
Pneumothorax - familial FBN1 Stefan Marciniak edited their review of FBN1
Pneumothorax - familial TSC2 Stefan Marciniak edited their review of TSC2
Pneumothorax - familial TSC1 Stefan Marciniak edited their review of TSC1
Pneumothorax - familial FLCN Ellen McDonagh classified FLCN as green
Pneumothorax - familial EFEMP2 Ellen McDonagh commented on EFEMP2
Pneumothorax - familial EFEMP2 Stefan Marciniak commented on EFEMP2
Pneumothorax - familial SERPINA1 Stefan Marciniak reviewed SERPINA1
Pneumothorax - familial ATP7A Stefan Marciniak reviewed ATP7A
Pneumothorax - familial ELN Stefan Marciniak reviewed ELN
Pneumothorax - familial EFEMP2 Stefan Marciniak reviewed EFEMP2
Pneumothorax - familial ALDH18A1 Stefan Marciniak reviewed ALDH18A1
Pneumothorax - familial PYCR1 Stefan Marciniak reviewed PYCR1
Pneumothorax - familial ATP6V0A2 Stefan Marciniak reviewed ATP6V0A2
Pneumothorax - familial FBLN4 Stefan Marciniak reviewed FBLN4*
Pneumothorax - familial FBLN5 Stefan Marciniak reviewed FBLN5
Pneumothorax - familial LTBP4 Stefan Marciniak reviewed LTBP4
Pneumothorax - familial COL3A1 Stefan Marciniak reviewed COL3A1
Pneumothorax - familial MTHFR Stefan Marciniak reviewed MTHFR
Pneumothorax - familial TSC2 Stefan Marciniak reviewed TSC2
Pneumothorax - familial TSC1 Stefan Marciniak reviewed TSC1
Pneumothorax - familial FBN1 Stefan Marciniak reviewed FBN1
Pneumothorax - familial TGFB3 Stefan Marciniak reviewed TGFB3
Pneumothorax - familial TGFB2 Stefan Marciniak reviewed TGFB2
Pneumothorax - familial SMAD3 Stefan Marciniak reviewed SMAD3
Pneumothorax - familial TGFBR2 Stefan Marciniak reviewed TGFBR2
Pneumothorax - familial TGFBR1 Stefan Marciniak reviewed TGFBR1