Autosomal recessive congenital ichthyosis
Gene: ABCA12Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 2/4 sources. One reviewer recommends Green. Numerous variants reported.Created: 8 Jun 2016, 8:39 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 4; Ichthyosis, congenital, autosomal recessive 4A; Ichthyosis, autosomal recessive 4B (harlequin)
This gene has been classified as Green List (High Evidence).
Phenotypes for ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277; Ichthyosis, autosomal recessive 4B (harlequin), 242500
This gene has been classified as Green List (High Evidence).
ABCA12 was added to Autosomal recessive congenital ichthyosispanel. Source: Illumina TruGenome Clinical Sequencing Services
ABCA12 was added to Autosomal recessive congenital ichthyosispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
ABCA12 was added to Autosomal recessive congenital ichthyosispanel. Sources: Eligibility statement prior genetic testing
ABCA12 was created by ellenmcdonagh