Hydrops fetalis

Gene: FLT4

Green List (high evidence)

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

1 review

Abhijit Kulkarni (Healius Pathology)

Green List (high evidence)

Non-immune fetal hydrops is a rare prenatal manifestation of Lymphedema, hereditary, IA (Milroy diease, OMIM:153100), but in general Milroy disease is not associated with more widespread lymphatic abnormalities.

A Ghalamkarpour et al (PMID:16965327) reported V878M substitution in a 22-week old fetus who was found to have fetal hydrops with bilateral leg edema, pleural effusions, hydrothorax, and pulmonary hypoplasia.

Daniel-Spiegel et al (PMID:16231305) report a case of primary congenital lymphedema (PCL) presenting as hydrops fetalis.
Created: 29 Mar 2022, 12:07 a.m. | Last Modified: 29 Mar 2022, 12:07 a.m.
Panel Version: 0.241

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lymphatic malformation 1, MIM# 153100

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphatic malformation 1, MIM# 153100
OMIM
136352
Clinvar variants
Variants in FLT4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flt4 has been classified as Green List (High Evidence).

29 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLT4 were changed from to Lymphatic malformation 1, MIM# 153100

29 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FLT4 were set to

29 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FLT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLT4 was added gene: FLT4 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLT4 was set to Unknown