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Cutis Laxa v0.10 FBLN5 Zornitza Stark changed review comment from: >3 families reported and functional data including mouse model.
Sources: Expert list; to: >3 families reported and functional data including mouse model.

Single report of mono-allelic variant (large intragenic duplication).

Sources: Expert list
Cutis Laxa v0.10 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Cutis Laxa v0.10 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Cutis Laxa v0.10 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434 to Cutis laxa, autosomal recessive, type IA MIM#219100; Cutis laxa, autosomal dominant 2 MIM#614434
Cutis Laxa v0.9 FBLN5 Zornitza Stark Publications for gene: FBLN5 were set to
Cutis Laxa v0.0 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434