SLC27A4

solute carrier family 27 member 4
OMIM: 604194, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SLC27A4 in Autosomal recessive congenital ichthyosis

Level 3: Ichthyoses
Level 2: Dermatological disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Ichthyosis prematurity syndrome, 608649
Green SLC27A4 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome, OMIM:608649
Red SLC27A4 in Palmoplantar keratodermas


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis prematurity syndrome, OMIM:608649
Green SLC27A4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ICHTHYOSIS PREMATURITY SYNDROME
Green SLC27A4 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ICHTHYOSIS PREMATURITY SYNDROME 608649
    Amber SLC27A4 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Ichthyosis prematurity syndrome, 608649