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Fetal anomalies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

At least 5 unrelated families reported; primary skin disorder unlikely to manifest antenatally.
Created: 10 Dec 2021, 6 a.m. | Last Modified: 10 Dec 2021, 6 a.m.
Panel Version: 0.1203

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
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

10 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cers3 has been classified as Red List (Low Evidence).

10 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023

10 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CERS3 were set to

10 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cers3 has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CERS3 was added gene: CERS3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023