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  3. SLC27A4
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Ichthyosis

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 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 families reported
Sources: Expert list
Created: 31 Jan 2020, 9:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis prematurity syndrome MIM#608649

Publications

Created: 31 Jan 2020, 9:19 a.m.

Panel version: 0.24

Details

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

History Filter Activity

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc27a4 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc27a4 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC27A4 was added gene: SLC27A4 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC27A4 were set to 12697906; 19631310; 31168818 Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome MIM#608649 Review for gene: SLC27A4 was set to GREEN