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  2. Autosomal recessive congenital ichthyosis
  3. CERS3
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Autosomal recessive congenital ichthyosis

Gene: CERS3

Green List (high evidence)
CERS3 (ceramide synthase 3)
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.
Created: 8 Jun 2016, 10:02 a.m.

Panel version: 0.16

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

Created: 18 Nov 2015, 2:50 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, 615023
OMIM
615276
Clinvar variants
Variants in CERS3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CERS3 were set to 23754960; 23549421

26 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CERS3 was created by ellenmcdonagh

26 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CERS3 was added to Autosomal recessive congenital ichthyosispanel. Sources: Radboud University Medical Center, Nijmegen