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Epidermolysis bullosa and congenital skin fragility v2.15 KRT10 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are more than 3 unrelated individuals with biallelic KRT10 variants and pidermolytic ichthyosis / hyperkeratosis - heterozygous family members were unaffected. Most individuals presented with generalized erythema, erosions, scaling and easily breaking blisters, with improvement later in life. Based on available evidence, the MOI should be updated from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; to: Comment on mode of inheritance: There are more than 3 unrelated individuals with biallelic KRT10 variants and epidermolytic ichthyosis / hyperkeratosis - heterozygous family members were unaffected. Most individuals presented with generalized erythema, erosions, scaling and easily breaking blisters, with improvement later in life. Based on available evidence, the MOI should be updated from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Epidermolysis bullosa and congenital skin fragility v2.15 KRT10 Ida Ertmanska edited their review of gene: KRT10: Changed publications to: 16505000, 20302579, 23957016, 29277919, 34273205, 38741524
Epidermolysis bullosa and congenital skin fragility v2.15 KRT10 Ida Ertmanska commented on gene: KRT10: Comment on mode of inheritance: There are more than 3 unrelated individuals with biallelic KRT10 variants and pidermolytic ichthyosis / hyperkeratosis - heterozygous family members were unaffected. Most individuals presented with generalized erythema, erosions, scaling and easily breaking blisters, with improvement later in life. Based on available evidence, the MOI should be updated from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
Epidermolysis bullosa and congenital skin fragility v2.15 KRT10 Ida Ertmanska Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis, OMIM:113800 to Epidermolytic hyperkeratosis 2B, autosomal recessive, OMIM:620707; Epidermolytic hyperkeratosis 2A, autosomal dominant, OMIM:620150
Epidermolysis bullosa and congenital skin fragility v2.14 KRT10 Ida Ertmanska Publications for gene: KRT10 were set to
Epidermolysis bullosa and congenital skin fragility v2.13 KRT10 Ida Ertmanska Tag Q2_26_MOI tag was added to gene: KRT10.
Epidermolysis bullosa and congenital skin fragility v2.13 KRT10 Ida Ertmanska reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16505000, 20302579, 29277919, 34273205, 38741524; Phenotypes: Epidermolytic hyperkeratosis 2B, autosomal recessive, OMIM:620707, Epidermolytic hyperkeratosis 2A, autosomal dominant, OMIM:620150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v1.28 KRT10 Ivone Leong Phenotypes for gene: KRT10 were changed from EHK; Epidermolytic hyperkeratosis, 113800 to Epidermolytic hyperkeratosis, OMIM:113800
Epidermolysis bullosa and congenital skin fragility v0.24 KRT10 Catherine Snow edited their review of gene: KRT10: Added comment: Following discussion with the Genomics England clinical team KRT10 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.18 KRT10 Catherine Snow Classified gene: KRT10 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.18 KRT10 Catherine Snow Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.15 KRT10 Catherine Snow reviewed gene: KRT10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.14 KRT10 Catherine Snow Source Expert Review Amber was added to KRT10.
Mode of inheritance for gene KRT10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.9 KRT10 Rebecca Foulger commented on gene: KRT10
Epidermolysis bullosa and congenital skin fragility v0.3 KRT10 Ellen McDonagh gene: KRT10 was added
gene: KRT10 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to EHK; Epidermolytic hyperkeratosis, 113800