Iron metabolism disorders - NOT common HFE mutations

Gene: FTL

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 9:02 a.m. | Last Modified: 1 Feb 2023, 9:02 a.m.

Panel Version: 1.38

The MOI for FTL should be "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to detect biallielic variants found in L-ferritin deficiency, dominant and recessive OMIM:615604.

Created: 2 Mar 2021, 5:41 p.m. | Last Modified: 2 Mar 2021, 5:41 p.m.

Panel Version: 1.14

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.

Created: 18 Feb 2019, 11:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.

Created: 13 Feb 2019, 12:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.

Created: 8 Feb 2019, 5:24 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
600886 Hyperferritinemia-cataract syndrome; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3

Publications

• 23421845
• 19176363
• 23940258
• 18413574

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

I don't know

Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 600886.HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC, 606159. NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 , 615604. L-FERRITIN DEFICIENCY; LFTD; PMID(s): none submitted

Created: 18 Feb 2019, 11:49 a.m.

Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; PMID(s): none submitted

Created: 13 Feb 2019, 12:39 p.m.

Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 600886 Hyperferritinemia-cataract syndrome; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; PMID(s): 23421845; 19176363; 23940258; 18413574

Created: 8 Feb 2019, 5:25 p.m.

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FTL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; PMID(s): 29797321; 20511138; 23421845; Neuroferritinopathy GeneReviews 2018; 12547246

Created: 5 Feb 2019, 5:51 p.m.

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.

Created: 5 Feb 2019, 5:50 p.m.

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