Cytopenias and congenital anaemias
Gene: FLT3EnsemblGeneIds (GRCh38): ENSG00000122025
EnsemblGeneIds (GRCh37): ENSG00000122025
OMIM: 136351, Gene2Phenotype
FLT3 is in 1 panel
2 reviews
Helen Brittain (Genomics England Curator)
One case in JMML with germline mutation. Therefore watch for further evidence. It is also implicated in somatic manner in ALL / AML. Not sufficient evidence at present for inclusion.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric
Publications
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Myelodysplastic syndrome (MDS), Paediatric
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Paediatric
- OMIM
- 136351
- Clinvar variants
- Variants in FLT3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)FLT3 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber Model of inheritance for gene FLT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Louise Daugherty (Genomics England Curator)FLT3 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)FLT3 was created by LouiseD