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Mendeliome

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

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association
Created: 6 Jan 2022, 5:31 a.m. | Last Modified: 6 Jan 2022, 5:31 a.m.
Panel Version: 0.10542

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis prematurity syndrome, MIM#608649

Publications

Details

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

History Filter Activity

6 Jan 2022, 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).

6 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC27A4 were changed from to Ichthyosis prematurity syndrome, MIM#608649

6 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC27A4 were set to

6 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC27A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC27A4 was added gene: SLC27A4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC27A4 was set to Unknown