Ichthyosis and erythrokeratoderma
Gene: CERS3
CERS3 (ceramide synthase 3)
EnsemblGeneIds (GRCh38): ENSG00000154227
EnsemblGeneIds (GRCh37): ENSG00000154227
OMIM: 615276, Gene2Phenotype
CERS3 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000154227
EnsemblGeneIds (GRCh37): ENSG00000154227
OMIM: 615276, Gene2Phenotype
CERS3 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 1/4 sources. One reviewer recommends Green, commenting that this is a real but rare gene for Autosomal recessive congenital ichthyosis. Two variants reported to date.Created: 8 Jun 2016, 10:02 a.m.
John McGrath (King's College London)
CERS3 joined the ARCI list in 2013, with a couple of families described - so a real but rare gene for ARCICreated: 18 Nov 2015, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARCI 9; Ichthyosis, congenital, autosomal recessive 9
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
- OMIM
- 615276
- Clinvar variants
- Variants in CERS3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
3 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CERS3 was added gene: CERS3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CERS3 were set to 23549421; 23754960 Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023