Autosomal recessive congenital ichthyosis
Gene: SLC27A4

SLC27A4 (solute carrier family 27 member 4)
EnsemblGeneIds (GRCh38): ENSG00000167114
EnsemblGeneIds (GRCh37): ENSG00000167114
OMIM: 604194, Gene2Phenotype
SLC27A4 is in 6 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.

Created: 8 Jun 2016, 10:32 a.m.

Panel version: 0.22

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

Created: 18 Nov 2015, 2:50 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Ichthyosis prematurity syndrome, 608649

OMIM

604194

Clinvar variants

Variants in SLC27A4

Penetrance

Complete

Panels with this gene