Autosomal recessive congenital ichthyosis
Gene: ABCA12EnsemblGeneIds (GRCh38): ENSG00000144452
EnsemblGeneIds (GRCh37): ENSG00000144452
OMIM: 607800, Gene2Phenotype
ABCA12 is in 6 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment 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.
John McGrath (King's College London)
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 4A, 601277
- Ichthyosis, autosomal recessive 4B (harlequin), 242500
- OMIM
- 607800
- Clinvar variants
- Variants in ABCA12
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277; Ichthyosis, autosomal recessive 4B (harlequin), 242500
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ABCA12 was added to Autosomal recessive congenital ichthyosispanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)ABCA12 was added to Autosomal recessive congenital ichthyosispanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)ABCA12 was created by ellenmcdonagh