Ichthyosis and erythrokeratoderma

Gene: CERS3

Green List (high evidence)

CERS3 (ceramide synthase 3)
EnsemblGeneIds (GRCh38): ENSG00000154227
EnsemblGeneIds (GRCh37): ENSG00000154227
OMIM: 615276, Gene2Phenotype
CERS3 is in 5 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)

Green List (high evidence)

CERS3 joined the ARCI list in 2013, with a couple of families described - so a real but rare gene for ARCI
Created: 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, 615023
OMIM
615276
Clinvar variants
Variants in CERS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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