Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ichthyosis and erythrokeratoderma v1.11 | ALOX12B | Ivone Leong Phenotypes for gene: ALOX12B were changed from Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) to congenital non-bullous ichthyosiform erythroderma, MONDO:0019306; Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ichthyosis and erythrokeratoderma v0.3 | ALOX12B |
Ellen McDonagh gene: ALOX12B was added gene: ALOX12B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALOX12B were set to 11773004; 17139268; 19890349; 16116617 Phenotypes for gene: ALOX12B were set to Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) |