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Cerebral vascular malformations

Gene: FLT4

Red List (low evidence)
FLT4 (fms related tyrosine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000037280
EnsemblGeneIds (GRCh37): ENSG00000037280
OMIM: 136352, Gene2Phenotype
FLT4 is in 10 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

One report of a somatic mutation only causing skin capillary haemangiomas. No association with cerebral vascular malformations
Created: 12 Dec 2016, 3:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemangioma, capillary infantile, susceptibility to 602089

Publications

Created: 12 Dec 2016, 3:19 p.m.

Panel version: 0.22

Details

Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemangioma, capillary infantile, somatic, 602089
  • Hemangioma, capillary infantile, somatic
OMIM
136352
Clinvar variants
Variants in FLT4
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to FLT4.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to FLT4.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FLT4 was added to Cerebrovascular disorderspanel. Source: Other

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FLT4 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FLT4 was created by ellenmcdonagh