Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Growth failure v0.145 NHLRC2 Zornitza Stark Marked gene: NHLRC2 as ready
Growth failure v0.145 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Growth failure v0.145 NHLRC2 Zornitza Stark Phenotypes for gene: NHLRC2 were changed from FINCA syndrome OMIM:618278 to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278
Growth failure v0.144 NHLRC2 Zornitza Stark Classified gene: NHLRC2 as Green List (high evidence)
Growth failure v0.144 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Growth failure v0.143 NHLRC2 Zornitza Stark reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29423877, 32435055; Phenotypes: Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.0 NHLRC2 Zornitza Stark gene: NHLRC2 was added
gene: NHLRC2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 29423877; 32435055
Phenotypes for gene: NHLRC2 were set to FINCA syndrome OMIM:618278