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  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. CERS3
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: CERS3

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

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1, PMID: 30578701 1 patient in Figure 1, PMID: 23754960 1 patient).
Sources: Literature
Created: 19 Aug 2020, 5:18 a.m. | Last Modified: 19 Aug 2020, 5:19 a.m.
Panel Version: 0.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 9 (MIM#615023)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Aug 2020, 5:18 a.m.
Last Modified: 19 Aug 2020, 5:19 a.m.
Panel version: 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9 (MIM#615023)
OMIM
615276
Clinvar variants
Variants in CERS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cers3 has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cers3 has been classified as Green List (High Evidence).

19 Aug 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: CERS3 was added gene: CERS3 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CERS3 were set to 23754960; 30578701; 23754960 Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9 (MIM#615023) Review for gene: CERS3 was set to GREEN gene: CERS3 was marked as current diagnostic