SLC27A4

solute carrier family 27 member 4
OMIM: 604194, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC27A4 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyosis prematurity syndrome MIM#608649

Green SLC27A4 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis prematurity syndrome, MIM#608649

Green SLC27A4 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome

Green SLC27A4 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Ichthyosis prematurity syndrome, MIM#608649

Red SLC27A4 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Ichthyosis prematurity syndrome, MIM#608649