Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ichthyosis and erythrokeratoderma v1.10 | ALOXE3 | Ivone Leong Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, OMIM:606545 to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545; congenital non-bullous ichthyosiform erythroderma, MONDO:0019306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ichthyosis and erythrokeratoderma v1.9 | ALOXE3 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Most patients present with collodion membrane at birth and have palmoplantar keratoderma;Ichthyosis, congenital, autosomal recessive 3, 606545;Nonbullous congenital ichthyosiform erythroderma (NBCIE) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ichthyosis and erythrokeratoderma v1.9 | ALOXE3 | Ivone Leong Phenotypes for gene: ALOXE3 were changed from Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE) to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ichthyosis and erythrokeratoderma v0.3 | ALOXE3 |
Ellen McDonagh gene: ALOXE3 was added gene: ALOXE3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE) |