Ichthyosis and erythrokeratoderma

Gene: SLC27A4

Green List (high evidence)

SLC27A4 (solute carrier family 27 member 4)
EnsemblGeneIds (GRCh38): ENSG00000167114
EnsemblGeneIds (GRCh37): ENSG00000167114
OMIM: 604194, Gene2Phenotype
SLC27A4 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 1/4 sources. Reviewer suggested this gene and recommended Green. It is associated with Ichthyosis prematurity syndrome, 608649, which overlaps with autosomal recessive congenital ichthyosis. Numerous variants reported.
Created: 8 Jun 2016, 10:32 a.m.

John McGrath (King's College London)

Green List (high evidence)

FATP4 (SLC27A4) causes ichthyosis prematurity syndrome. There is a protein interaction with ichthyin (NIPAL4) and the phenotype in ichthyosis prematurity syndrome does overlap with ARCI - so there may be some cases that are more ARCI - maybe a level 2 evidence here. Kids are born prematurely and have respiratory difficulty often requiring ventilation - but the skin is clearly ARCI.
Created: 18 Nov 2015, 2:50 p.m.

Phenotypes
Ichthyosis prematurity syndrome

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome, 608649
OMIM
604194
Clinvar variants
Variants in SLC27A4
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC27A4 was added gene: SLC27A4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome, 608649