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  2. Ectodermal dysplasia
  3. CERS3
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Ectodermal dysplasia

Gene: CERS3

Red List (low evidence)
CERS3 (ceramide synthase 3)
EnsemblGeneIds (GRCh38): ENSG00000154227
EnsemblGeneIds (GRCh37): ENSG00000154227
OMIM: 615276, Gene2Phenotype
CERS3 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Although some people affected with autosomal recessive congenital ichthyosis (ARCI) may exhibit cicatricial (scarring) alopecia, there is no direct evidence for the role of CERS3.
Created: 13 Jul 2017, 1:37 p.m.
Created: 13 Jul 2017, 1:37 p.m.

Panel version: Imported from Familial cicatricial alopecia panel version 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 9, 615023
OMIM
615276
Clinvar variants
Variants in CERS3
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CERS3 was added gene: CERS3 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERS3 were set to Some affected persons exhibit scarring alopecia; Ichthyosis, congenital, autosomal recessive 9, 615023