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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 |
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| 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 |
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