Fetal anomalies
Gene: FLT4

FLT4 (fms related tyrosine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000037280
EnsemblGeneIds (GRCh37): ENSG00000037280
OMIM: 136352, Gene2Phenotype
FLT4 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are also associated with lymphatic malformations -- severe end of the spectrum can present perinatally.
Created: 23 Dec 2021, 3:10 a.m. | Last Modified: 23 Dec 2021, 3:10 a.m.

Panel Version: 0.1605

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphatic malformation 1, MIM# 153100

Publications

Created: 23 Dec 2021, 3:10 a.m.
Last Modified: 23 Dec 2021, 3:10 a.m.
Panel version: 0.1605

Tegan French (Victorian Clinical Genetics Services)

Green List (high evidence)

Reuter et al report Nine unrelated probands with novel FLT4 variants: seven loss-of-function, including an 8-kb deletion, and two predicted damaging
Created: 24 Feb 2020, 10:41 p.m. | Last Modified: 24 Feb 2020, 10:41 p.m.

Panel Version: 0.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects, multiple types, 7

Publications

PubMed: 30232381

Created: 24 Feb 2020, 10:41 p.m.
Last Modified: 24 Feb 2020, 10:41 p.m.
Panel version: Imported from Congenital Heart Defect panel version 0.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Congenital heart defects, multiple types, 7, MIM# 618780
Lymphatic malformation 1, MIM# 153100

OMIM

136352

Clinvar variants

Variants in FLT4

Penetrance

None

Publications

Panels with this gene