Familial non syndromic congenital heart disease
Gene: FLT4
FLT4 (fms related tyrosine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000037280
EnsemblGeneIds (GRCh37): ENSG00000037280
OMIM: 136352, Gene2Phenotype
FLT4 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000037280
EnsemblGeneIds (GRCh37): ENSG00000037280
OMIM: 136352, Gene2Phenotype
FLT4 is in 10 panels
2 reviews
Dmitrijs Rots (Children's Clinical University Hospital)
Statistically proven 30582441 enrichment in multiple affected cases. Enough for green rating.Created: 30 Apr 2024, 7:50 a.m. | Last Modified: 30 Apr 2024, 7:50 a.m.
Panel Version: 1.80
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital heart defect
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
PMID:28991257 - Pedigrees of 10 kindreds with cardiac heart disease shown, 6 carriers of 10 were heterozygous for the variant but unaffected, suggesting incomplete penetrance. The phenotype in 9 of 10 probands and 3 of 4 affected relatives was Tetralogy of Fallot (TOF). Loss of function variants (terminating or frameshift) reported.Created: 18 Oct 2017, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tetralogy of Fallot
Publications
- PMID:28991257
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Tetralogy of Fallot
- OMIM
- 136352
- Clinvar variants
- Variants in FLT4
- Penetrance
- Incomplete
- Publications
-
- PMID:28991257
- Panels with this gene
History Filter Activity
18 Oct 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FLT4 was created by ellenmcdonagh
18 Oct 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FLT4 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature