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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. |
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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 |