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Rare genetic inflammatory skin disorders v4.19 CARD11 Ida Ertmanska Tag Q2_26_MOI tag was added to gene: CARD11.
Rare genetic inflammatory skin disorders v4.19 CARD11 Ida Ertmanska commented on gene: CARD11: Comment on mode of inheritance: There are at least 3 unrelated individuals reported in literature with biallelic CARD11 variants and inflammatory skin presentation (severe atopic dermatitis, lichenification of the palms and soles). In 1 case, dermatitis was the main phenotype, with no severe recurrent infections noted. Hence, the MOI should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal on Rare genetic inflammatory skin disorders.
Rare genetic inflammatory skin disorders v4.19 CARD11 Ida Ertmanska Publications for gene: CARD11 were set to 28628108
Rare genetic inflammatory skin disorders v4.18 CARD11 Ida Ertmanska reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26289640, 36729250, https://doi.org/10.1186/s43042-024-00489-3, https://doi.org/10.4049/jimmunol.212.supp.0307.5377; Phenotypes: Immunodeficiency 11B with atopic dermatitis, OMIM:617638, Immunodeficiency 11A, OMIM:615206; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v1.10 CARD11 Ivone Leong Phenotypes for gene: CARD11 were changed from Immunodeficiency 11B with atopic dermatitis to Immunodeficiency 11B with atopic dermatitis, OMIM:617638
Rare genetic inflammatory skin disorders v0.22 CARD11 Catherine Snow Added phenotypes Immunodeficiency 11B with atopic dermatitis for gene: CARD11
Publications for gene CARD11 were changed from to 28628108
Rare genetic inflammatory skin disorders v0.21 CARD11 Tom Cullup reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: 28628108; Phenotypes: Immunodeficiency 11B with atopic dermatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.18 CARD11 Catherine Snow Source Expert Review Green was added to CARD11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare genetic inflammatory skin disorders v0.17 CARD11 Catherine Snow reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v0.16 CARD11 Catherine Snow gene: CARD11 was added
gene: CARD11 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review
Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted