Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cerebral vascular malformations v0.109 | FLVCR2 | Bryony Thompson Classified gene: FLVCR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral vascular malformations v0.109 | FLVCR2 | Bryony Thompson Gene: flvcr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral vascular malformations v0.108 | FLVCR2 | Bryony Thompson reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38693257, 32333401, 20206334; Phenotypes: Proliferative vasculopathy and hydranencephaly/hydrocephaly MONDO:0009168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral vascular malformations v0.39 | FLVCR2 | Sangavi Sivagnanasundram reviewed gene: FLVCR2: Rating: RED; Mode of pathogenicity: None; Publications: 4555262; Phenotypes: Fowler syndrome MONDO:0009168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral vascular malformations v0.0 | FLVCR2 |
Zornitza Stark gene: FLVCR2 was added gene: FLVCR2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLVCR2 were set to 20206334 Phenotypes for gene: FLVCR2 were set to Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |