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  3. FLT4
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Congenital Heart Defect

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

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

Created: 24 Feb 2020, 10:41 p.m.
Last Modified: 24 Feb 2020, 10:41 p.m.
Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects, multiple types, 7, MIM#618780
OMIM
136352
Clinvar variants
Variants in FLT4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2020, 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).

27 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLT4 were changed from to Congenital heart defects, multiple types, 7, MIM#618780

27 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FLT4 were set to

27 Feb 2020, 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 Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FLT4 was set to Unknown