Activity

Filter

Cancel
Date Panel Item Activity
25 actions
Palmoplantar Keratoderma and Erythrokeratoderma v1.0 KRT1 Gene migrated from ENSG00000167768 to ENSG00000167768 (gene set migration)
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Marked gene: KRT17 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Gene: krt17 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Phenotypes for gene: KRT17 were changed from to Pachyonychia congenita 2 (MIM#167210)
Palmoplantar Keratoderma and Erythrokeratoderma v0.55 KRT17 Zornitza Stark Publications for gene: KRT17 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.54 KRT17 Zornitza Stark Mode of inheritance for gene: KRT17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT17 Ain Roesley changed review comment from: Also known as Jackson-Lawler Syndrome, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.

PMID: 31823354;
- cohort of 815 individuals, 134 patients had variants in KRT17
- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma; to: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.

PMID: 31823354;
- cohort of 815 individuals, 134 patients had variants in KRT17
- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT17 Ain Roesley reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 2 (MIM#167210); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Marked gene: KRT16 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Gene: krt16 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Phenotypes for gene: KRT16 were changed from to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.40 KRT16 Zornitza Stark Publications for gene: KRT16 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.39 KRT16 Zornitza Stark Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000); Dermatopathia pigmentosa reticularis (MIM#125595)
Palmoplantar Keratoderma and Erythrokeratoderma v0.37 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.36 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KRT16 Naomi Baker reviewed gene: KRT16: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8595410, 10839714; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000), Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KRT14 Ain Roesley reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 16960809, 19040520; Phenotypes: Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000), Dermatopathia pigmentosa reticularis (MIM#125595); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT17 Zornitza Stark gene: KRT17 was added
gene: KRT17 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT17 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT16 Zornitza Stark gene: KRT16 was added
gene: KRT16 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT16 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT14 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT10 was set to Unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.0 KRT1 Zornitza Stark gene: KRT1 was added
gene: KRT1 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT1 was set to Unknown