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| Ichthyosis and erythrokeratoderma v1.27 | GJB2 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hystrix-like ichthyosis with deafness, 602540;Keratoderma, palmoplantar, with deafness, 148350;Deafness, autosomal recessive 1A, 220290;Deafness, autosomal dominant 3A, 601544;Keratitis-ichthyosis-deafness syndrome, 148210;Vohwinkel syndrome, 124500;Keratoderma with deafness;Bart-Pumphrey syndrome, 149200 |
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| Ichthyosis and erythrokeratoderma v1.27 | GJB2 | Ivone Leong Phenotypes for gene: GJB2 were changed from Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200 to Hystrix-like ichthyosis with deafness, OMIM:602540; Keratoderma, palmoplantar, with deafness, OMIM:148350; Keratitis-ichthyosis-deafness syndrome, OMIM:148210; Vohwinkel syndrome, OMIM:24500; Bart-Pumphrey syndrome, OMIM:149200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | GJB2 |
Ellen McDonagh gene: GJB2 was added gene: GJB2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200 |
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