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Arthrogryposis v10.16 FBN2 Ida Ertmanska Publications for gene: FBN2 were set to 7493032; 33571691; 25558065; 28383543
Arthrogryposis v10.15 FBN2 Ida Ertmanska Tag Q3_26_MOI tag was added to gene: FBN2.
Arthrogryposis v10.15 FBN2 Ida Ertmanska commented on gene: FBN2: Comment on mode of inheritance: There are 4 unrelated individuals reported in literature with biallelic FBN2 variants. However, these individuals presented with a spectrum of phenotypes: one with dextro-transposition of the great arteries, one with congenital contractural arachnodactyly, one individual with a myofibrillar myopathy, and one fetal case with fetal akinesia with brain ischemia and neonatal death. Hence, the mode of inheritance should be changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown.
Arthrogryposis v10.15 FBN2 Ida Ertmanska reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 28383543, 33571691, 38791509; Phenotypes: Contractural arachnodactyly, congenital, OMIM:121050, congenital contractural arachnodactyly, MONDO:0007363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v3.154 FBN2 Ivone Leong Tag Q2_21_MOI was removed from gene: FBN2.
Arthrogryposis v3.154 FBN2 Sarah Leigh commented on gene: FBN2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Arthrogryposis v3.153 FBN2 Ivone Leong Source NHS GMS was added to FBN2.
Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.95 FBN2 Sarah Leigh reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.95 FBN2 Sarah Leigh Publications for gene: FBN2 were set to 7493032; 33571691
Arthrogryposis v3.94 FBN2 Sarah Leigh Tag Q2_21_MOI tag was added to gene: FBN2.
Arthrogryposis v3.94 FBN2 Sarah Leigh Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
Arthrogryposis v3.93 FBN2 Sarah Leigh Publications for gene: FBN2 were set to 7493032
Arthrogryposis v3.91 FBN2 Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Arthrogryposis FBN2 Alice Gardham marked FBN2 as ready
Arthrogryposis FBN2 Alice Gardham classified FBN2 as green
Arthrogryposis FBN2 Alice Gardham reviewed FBN2