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Bone Marrow Failure

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Immunodeficiency and bone marrow failure also present in null mouse models.
Created: 11 Nov 2024, 7:19 a.m. | Last Modified: 11 Nov 2024, 7:19 a.m.
Panel Version: 1.101

Phenotypes
?Immunodeficiency 125 MIM#620926

Publications

Created: 11 Nov 2024, 7:19 a.m.
Last Modified: 11 Nov 2024, 7:19 a.m.
Panel version: 1.101

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 125, MIM# 620926

Created: 29 Aug 2024, 8:16 a.m.
Last Modified: 29 Aug 2024, 8:16 a.m.
Panel version: 1.93

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

3x sibs from a consanguineous family with a homozygous frameshift variant p.(Ser118Alafs*23)
recurrent infections and hypoplastic bone marrow with marked reduction in HPSCs
KO mice recapitulated BM findings

over a period of 5 (P1), 9 (P2), and 19 (P3) years of follow-up, all 3 were found to have moderate anaemia.
Total platelet counts and morphology decreased in 2 siblings.
Total WBC oscillated between low and normal
Eosinophils, basophils were in normal range
Neutrophils were in the lower part of the control range, ocassiannly lower
total lymphocyte counts were normal
Sources: Literature
Created: 5 Jun 2024, 1:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Increased susceptibility to infections

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Jun 2024, 1:15 a.m.

Panel version: 1.92

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
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).

29 Aug 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLT3LG were changed from Increased susceptibility to infections to Immunodeficiency 125, MIM# 620926

5 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: flt3lg has been classified as Red List (Low Evidence).

5 Jun 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: FLT3LG was added gene: FLT3LG was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLT3LG were set to 38701783 Phenotypes for gene: FLT3LG were set to Increased susceptibility to infections Review for gene: FLT3LG was set to RED gene: FLT3LG was marked as current diagnostic