PNPLA1

patatin like phospholipase domain containing 1
OMIM: 612121, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red PNPLA1 in Familial cicatricial alopecia

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, 615024
  • Some affected persons exhibit scarring alopecia

Green PNPLA1 in Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders
Version 1.14

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, 615024

Green PNPLA1 in Ichthyosis and erythrokeratoderma


Version 1.73
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, OMIM:615024

Red PNPLA1 in Ectodermal dysplasia


Version 1.41
Latest signed off version: v1.10 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, 615024
  • Some affected persons exhibit scarring alopecia

Green PNPLA1 in Palmoplantar keratodermas


Version 1.18
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

Green PNPLA1 in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
  • Autosomal recessive congenital ichthyosis 10, MONDO:0014011

Amber PNPLA1 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • CONGENITAL ICHTHYOSIS