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| DDG2P v3.12 | FBN2 | Achchuthan Shanmugasundram reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9737771, 11281275, 20799338, 9106527, 9199560, 8900230, 10797416; Phenotypes: CONGENITAL CONTRACTURAL ARACHNODACTYLY, OMIM:121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FBN2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene FBN2 was changed from Other - please provide details in the comments to Other Publications for gene: FBN2 were updated from 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527; 7493032; 33571691; 25558065; 28383543 to 9737771; 11281275; 20799338; 9106527; 33571691; 28383543; 7493032; 25558065; 9199560; 8900230; 10797416 |
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| DDG2P v2.76 | FBN2 | Eleanor Williams commented on gene: FBN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | FBN2 | Eleanor Williams Tag Q2_21_MOI was removed from gene: FBN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.27 | FBN2 | Sarah Leigh commented on gene: FBN2: It would appear from PMIDs 33571691, 25558065 & 28383543 that biallelic variants should be considered for this gene and as such the MOI should be changed to BOTH monallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.27 | FBN2 | Sarah Leigh reviewed gene: FBN2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.27 | FBN2 | Sarah Leigh Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.26 | FBN2 | Sarah Leigh Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.25 | FBN2 | Sarah Leigh Tag Q2_21_MOI tag was added to gene: FBN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | FBN2 | Rebecca Foulger reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | FBN2 |
Rebecca Foulger gene: FBN2 was added gene: FBN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527 Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 Mode of pathogenicity for gene: FBN2 was set to Other - please provide details in the comments |
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