SDR9C7

short chain dehydrogenase/reductase family 9C member 7
OMIM: 609769, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber SDR9C7 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
Red SDR9C7 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Autosomal Recessive Congenital Ichthyosis (includes palmoplantar keratoderma)
  • ARCI
  • Ichthyosis, congenital, autosomal recessive 13 617574
Green SDR9C7 in Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders
Version 1.14

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13 617574
Green SDR9C7 in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Amber SDR9C7 in Ectodermal dysplasia


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
Green SDR9C7 in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 617574
  • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
Green SDR9C7 in Fetal anomalies


Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13, OMIM:617574