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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 |
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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 v2.14 | 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 v2.0 | 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 v1.9 | FLCN | Louise Daugherty reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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) |
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Pneumothorax - familial | FLCN | Olivia Niblock marked FLCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pneumothorax - familial | FLCN | Ellen McDonagh classified FLCN as green |