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Epidermolysis bullosa v1.10 KRT17 Bryony Thompson Marked gene: KRT17 as ready
Epidermolysis bullosa v1.10 KRT17 Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.10 KRT17 Bryony Thompson Classified gene: KRT17 as Green List (high evidence)
Epidermolysis bullosa v1.10 KRT17 Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.9 KRT17 Bryony Thompson Mode of pathogenicity for gene: KRT17 was changed from None to Other
Epidermolysis bullosa v1.8 KRT16 Bryony Thompson Marked gene: KRT16 as ready
Epidermolysis bullosa v1.8 KRT16 Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.8 KRT16 Bryony Thompson Classified gene: KRT16 as Green List (high evidence)
Epidermolysis bullosa v1.8 KRT16 Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence).
Epidermolysis bullosa v1.5 KRT17 Sangavi Sivagnanasundram gene: KRT17 was added
gene: KRT17 was added to Epidermolysis bullosa. Sources: Other
Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT17 were set to 11886499; 21326300
Phenotypes for gene: KRT17 were set to Pachyonychia congenita 2 (MIM#167210)
Review for gene: KRT17 was set to GREEN
Added comment: Also reported as Jackson-Lawler type syndrome

PMID: 11886499
4 unrelated individuals with pachyonychia congenita like phenotype

PMID: 21326300
Heterozygous pathogenic mutations have a dominant-negative effect on the KRT17 protein
Sources: Other
Epidermolysis bullosa v1.5 KRT16 Sangavi Sivagnanasundram gene: KRT16 was added
gene: KRT16 was added to Epidermolysis bullosa. Sources: Other
Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT16 were set to 16250206
Phenotypes for gene: KRT16 were set to Pachyonychia congenita 1 (MIM#167200)
Mode of pathogenicity for gene: KRT16 was set to Other
Review for gene: KRT16 was set to GREEN
Added comment: PMID: 16250206
Typically identified by nail bed, palmoplantar epidermis (widespread), epidermal appendages, oral mucosa and wound healing.
>5 unrelated families with a consistent phenotype of PC and a heterozygous missense variant in KRT16.
Sources: Other
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Marked gene: KRT1 as ready
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Classified gene: KRT1 as Green List (high evidence)
Epidermolysis bullosa v0.34 KRT1 Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Classified gene: KRT10 as Green List (high evidence)
Epidermolysis bullosa v0.30 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.24 KRT1 Paul De Fazio gene: KRT1 was added
gene: KRT1 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT1 were set to 7511022; 21271994
Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis (MIM#113800; Epidermolytic ichthyosis
Review for gene: KRT1 was set to GREEN
gene: KRT1 was marked as current diagnostic
Added comment: Well-established gene-disease association. Associated with Epidermolytic hyperkeratosis, Ichthyosis, and Palmoplantar keratoderma. OMIM says AD and AR associations for EHK but this seems to apply to KRT10, not KRT1. Multiple families reported mostly with EHK (also referred to as epidermolytic ichthyosis in the literature? I'm unsure about the phenotype distinctions).

EHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel.
Sources: Literature
Epidermolysis bullosa v0.24 KRT10 Paul De Fazio gene: KRT10 was added
gene: KRT10 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT10 were set to 1380725; 1381287; 7508181; 20798280; 16505000; 18219278; 19474805
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (MIM#113800); Ichthyosis with confetti (MIM#609165); Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)
Review for gene: KRT10 was set to GREEN
gene: KRT10 was marked as current diagnostic
Added comment: Well-established gene-disease association.

Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.
Sources: Literature
Epidermolysis bullosa v0.23 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Epidermolysis bullosa v0.23 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.23 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
Epidermolysis bullosa v0.22 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Epidermolysis bullosa v0.21 KRT14 Zornitza Stark Mode of pathogenicity for gene: KRT14 was changed from to Other
Epidermolysis bullosa v0.20 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Epidermolysis bullosa v0.19 KRT14 Kristin Rigbye reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Epidermolysis bullosa v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRT14 was set to Unknown