Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark changed review comment from: At least 3 families reported.; to: At least 3 families reported. Missense variants.

Note bi-allelic LoF variants are associated with immune dysregulation.
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark Marked gene: RHBDF2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.110 RHBDF2 Zornitza Stark Phenotypes for gene: RHBDF2 were changed from to Tylosis with oesophageal cancer, MIM# 148500
Palmoplantar Keratoderma and Erythrokeratoderma v0.109 RHBDF2 Zornitza Stark Publications for gene: RHBDF2 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.108 RHBDF2 Zornitza Stark Mode of inheritance for gene: RHBDF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.107 RHBDF2 Zornitza Stark reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265016, 22638770; Phenotypes: Tylosis with esophageal cancer, MIM# 148500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 RHBDF2 Zornitza Stark gene: RHBDF2 was added
gene: RHBDF2 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RHBDF2 was set to Unknown