CERS3

ceramide synthase 3
OMIM: 615276, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red CERS3 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, 615023
  • Some affected persons exhibit scarring alopecia

Green CERS3 in Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, 615023

Green CERS3 in Ichthyosis and erythrokeratoderma


Version 1.60
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, OMIM:615023

Red CERS3 in Ectodermal dysplasia


Version 1.19
Latest signed off version: v1.10 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 9, 615023

Green CERS3 in Palmoplantar keratodermas


Version 1.7
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis

Amber CERS3 in Fetal anomalies


Version 1.638
Latest signed off version: v1.637 (30 Jun 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, 615023
Tags
  • for-review