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  2. Combined Immunodeficiency
  3. FLT3LG
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Combined Immunodeficiency

Gene: FLT3LG

Amber List (moderate evidence)
FLT3LG (fms related tyrosine kinase 3 ligand)
EnsemblGeneIds (GRCh38): ENSG00000090554
EnsemblGeneIds (GRCh37): ENSG00000090554
OMIM: 600007, Gene2Phenotype
FLT3LG is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One family reported and mouse models. IUIS IEI committee classify this gene as a Combined immunodeficiency with associated or syndromic features.
Sources: Expert list
Created: 11 Nov 2024, 7:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Immunodeficiency 125 MIM#620926

Publications

Created: 11 Nov 2024, 7:19 a.m.

Panel version: 1.106

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Immunodeficiency 125 MIM#620926
OMIM
600007
Clinvar variants
Variants in FLT3LG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: flt3lg has been classified as Amber List (Moderate Evidence).

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: flt3lg has been classified as Amber List (Moderate Evidence).

11 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: FLT3LG was added gene: FLT3LG was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLT3LG were set to 10828034; 38701783 Phenotypes for gene: FLT3LG were set to ?Immunodeficiency 125 MIM#620926 Review for gene: FLT3LG was set to AMBER