Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Frontonasal dysplasia v1.3 KCTD15 Zornitza Stark Marked gene: KCTD15 as ready
Frontonasal dysplasia v1.3 KCTD15 Zornitza Stark Gene: kctd15 has been classified as Amber List (Moderate Evidence).
Frontonasal dysplasia v1.3 Zornitza Stark Copied gene KCTD15 from panel Mendeliome
Frontonasal dysplasia v1.3 KCTD15 Zornitza Stark gene: KCTD15 was added
gene: KCTD15 was added to Frontonasal dysplasia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: KCTD15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCTD15 were set to 38296633
Phenotypes for gene: KCTD15 were set to frontonasal dysplasia, MONDO:0016643
Mode of pathogenicity for gene: KCTD15 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments