1. Genes and Genomic Entities
  2. SLC27A4

SLC27A4

solute carrier family 27 member 4
OMIM: 604194, Gene2Phenotype

8 panels

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

Level 3: Ichthyoses
Level 2: Dermatological disorders
Version 1.14

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


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome, OMIM:608649
Green SLC27A4 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
  • Ichthyosis prematurity syndrome, OMIM:608649
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Red SLC27A4 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green SLC27A4 in Fetal anomalies


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

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


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green SLC27A4 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ichthyosis prematurity syndrome, 608649