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Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia 2, Clouston type, 129500;Clouston syndrome;palmoplantar hyperkeratosis;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Phenotypes for gene: GJB6 were changed from Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT to Ectodermal dysplasia 2, Clouston type, OMIM:129500
Ichthyosis and erythrokeratoderma v0.3 GJB6 Ellen McDonagh gene: GJB6 was added
gene: GJB6 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJB6 were set to 8845850; 11874494
Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT