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Ectodermal dysplasia v0.29 GJB2 Catherine Snow commented on gene: GJB2
Ectodermal dysplasia v0.15 GJB2 Catherine Snow Source Expert Review Amber was added to GJB2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ectodermal dysplasia v0.3 GJB2 Ellen McDonagh Added phenotypes Hystrix-like ichthyosis with deafness, 602540; clouston syndrome; Scarring alopecia; HID syndrome for gene: GJB2
Ectodermal dysplasia v0.3 GJB2 Ellen McDonagh gene: GJB2 was added
gene: GJB2 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJB2 were set to 2681028; 25575739; 25808784; 15757815
Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness, 602540; clouston syndrome; Scarring alopecia; HID syndrome