Vascular skin disorders
Gene: FLT4EnsemblGeneIds (GRCh38): ENSG00000037280
EnsemblGeneIds (GRCh37): ENSG00000037280
OMIM: 136352, Gene2Phenotype
FLT4 is in 10 panels
6 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before demoting this gene to red.Created: 4 Dec 2024, 10:12 p.m. | Last Modified: 4 Dec 2024, 10:12 p.m.
Panel Version: 1.65
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Inclusion of FLT4 should be reviewed by the GMS specialist team due to conflicting reviews.
Primary lymphoedema caused by heterozygous variants in this gene does not fit the panel scope and is more appropriate for R136 Primary lymphoedema. Since 2002, there has only been one report of a somatic variant causing skin capillary haemangiomas (PMID:11807987). There has been no evidence of germline variants causing a similar phenotype.Created: 25 Mar 2024, 2:25 p.m. | Last Modified: 25 Mar 2024, 2:25 p.m.
Panel Version: 1.57
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Infantile haemangioma;Milroy diseaseCreated: 22 Mar 2021, 3:15 p.m. | Last Modified: 22 Mar 2021, 3:15 p.m.
Panel Version: 1.23
Zornitza Stark (Australian Genomics)
Main association is with lymphedema, somatic variants have been linked to haemangiomas ?single report.Created: 2 Jul 2020, 4:11 a.m. | Last Modified: 2 Jul 2020, 4:11 a.m.
Panel Version: 1.3
Phenotypes
Hemangioma, capillary infantile, somatic, MIM# 602089
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: FLT4; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 12:05 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- Phenotypes
-
- Hemangioma, capillary infantile, somatic, OMIM:602089
- Tags
- OMIM
- 136352
- Clinvar variants
- Variants in FLT4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_demote_red was removed from gene: FLT4. Tag Q1_24_expert_review was removed from gene: FLT4. Tag to_be_confirmed_NHSE tag was added to gene: FLT4.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: flt4 has been classified as Green List (High Evidence).
Added Tag, Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag somatic tag was added to gene: FLT4. Tag Q1_24_demote_red tag was added to gene: FLT4. Tag Q1_24_expert_review tag was added to gene: FLT4.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FLT4 were changed from Infantile haemangioma; Milroy disease to Hemangioma, capillary infantile, somatic, OMIM:602089
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FLT4 were set to
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to FLT4.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: FLT4 was added gene: FLT4 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLT4 were set to Infantile haemangioma; Milroy disease