Autosomal recessive congenital ichthyosis
Gene: ALOX12BComment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. Numerous variants reportedCreated: 8 Jun 2016, 8:27 a.m.
Most cases can be explained by 6 genes, indeed nearly 80% have mutations in these genes which clearly have type 3 supportive evidence. Based on studies of >500 patients the breakdown is usually as follows: TGM1 (32%), NIPAL4 (16%), ALOX12B (12%), CYP4F22 (8%), ABCA12 (5%), ALOXE3 (5%) . which leaves 22% split among some of the others or unknown.Created: 18 Nov 2015, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARCI 2; Ichthyosis, congenital, autosomal recessive 2
This gene has been classified as Green List (High Evidence).
Phenotypes for ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100
ALOX12B was added to Autosomal recessive congenital ichthyosispanel. Source: UKGTN
ALOX12B was added to Autosomal recessive congenital ichthyosispanel. Source: Illumina TruGenome Clinical Sequencing Services
ALOX12B was added to Autosomal recessive congenital ichthyosispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
ALOX12B was added to Autosomal recessive congenital ichthyosispanel. Sources: Eligibility statement prior genetic testing
ALOX12B was created by ellenmcdonagh