Autosomal recessive congenital ichthyosis
Gene: NIPAL4Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. Four variants reported.Created: 8 Jun 2016, 8:34 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 6; Ichthyosis, congenital, autosomal recessive 6
This gene has been classified as Green List (High Evidence).
Phenotypes for NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281
NIPAL4 was added to Autosomal recessive congenital ichthyosispanel. Source: UKGTN
NIPAL4 was added to Autosomal recessive congenital ichthyosispanel. Source: Illumina TruGenome Clinical Sequencing Services
NIPAL4 was added to Autosomal recessive congenital ichthyosispanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
NIPAL4 was added to Autosomal recessive congenital ichthyosispanel. Sources: Eligibility statement prior genetic testing
NIPAL4 was created by ellenmcdonagh