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 1.2

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 1.17

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 1.10

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

Green SDR9C7 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 13, OMIM:617574

Amber SDR9C7 in Ectodermal dysplasia


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

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 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
  • 617574
  • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13

Amber SDR9C7 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 13, OMIM:617574
Tags
  • for-review