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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 v2.22 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 v2.16 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 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 v1.9 COL3A1 Louise Daugherty reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 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 COL3A1 Stefan Marciniak edited their review of COL3A1
Pneumothorax - familial COL3A1 Stefan Marciniak reviewed COL3A1