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Fetal anomalies

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 characterized prenatally by ultrasound findings of polyhydramnios, separation of the chorioamniotic membranes, echogenic amniotic fluid, and clear chorionic fluid. Patients born prematurely between 29 and 35 weeks' gestation with sometimes life-threatening neonatal asphyxia.
Created: 6 Jan 2022, 5:30 a.m. | Last Modified: 6 Jan 2022, 5:30 a.m.
Panel Version: 0.1898

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
  • Genomics England PanelApp
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

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Jan 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SLC27A4 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC27A4 was added gene: SLC27A4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME