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Iron metabolism disorders - NOT common HFE mutations v1.38 | FTL | Achchuthan Shanmugasundram Tag Q2_21_MOI was removed from gene: FTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.38 | FTL | Achchuthan Shanmugasundram commented on gene: FTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.37 | FTL | Achchuthan Shanmugasundram Mode of inheritance for gene FTL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.14 | FTL | Sarah Leigh edited their review of gene: FTL: Added comment: 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.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.14 | FTL | Sarah Leigh Tag Q2_21_MOI tag was added to gene: FTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.14 | FTL | Sarah Leigh Phenotypes for gene: FTL were changed from Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 OMIM:606159 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.13 | FTL | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.13 | FTL | Sarah Leigh Phenotypes for gene: FTL were changed from NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 to Hyperferritinemia-cataract syndrome OIMM:600886; L-ferritin deficiency, dominant and recessive OMIM:615604; Neurodegeneration with brain iron accumulation 3 606159 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.12 | FTL | Sarah Leigh Added comment: Comment on phenotypes: L-ferritin deficiency, dominant and recessive OMIM:615604;Hyperferritinemia-cataract syndrome OMIM:600886;Neurodegeneration with brain iron accumulation 3 OMIM:606159 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.12 | FTL | Sarah Leigh Phenotypes for gene: FTL were changed from NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 to NBIA3; 615604 L-FERRITIN DEFICIENCY; LFTD; 600886 Hyperferritinemia-cataract syndrome; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 615604 L-ferritin deficiency, dominant and recessive; 606159 Neurodegeneration with brain iron accumulation 3; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.25 | FTL | Louise Daugherty commented on gene: FTL: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.24 | FTL | Steve Keeney reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT, HRFTC, 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NBIA3, 615604 L-FERRITIN DEFICIENCY, LFTD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.23 | FTL | Louise Daugherty Added phenotypes NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; LFTD; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 for gene: FTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.21 | FTL | Louise Daugherty Source North West GLH was added to FTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.20 | FTL | Louise Daugherty commented on gene: FTL: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.15 | FTL | Mandy nesbitt reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT, HRFTC, 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NBIA3, 615604 L-FERRITIN DEFICIENCY, LFTD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.14 | FTL | Louise Daugherty Added phenotypes NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; LFTD; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 for gene: FTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.12 | FTL | Louise Daugherty Source Yorkshire and North East GLH was added to FTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.11 | FTL | Louise Daugherty commented on gene: FTL: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.10 | FTL | Frances Smith reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23421845, 19176363, 23940258, 18413574; Phenotypes: 600886 Hyperferritinemia-cataract syndrome, 615604 L-ferritin deficiency, dominant and recessive, 606159 Neurodegeneration with brain iron accumulation 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.9 | FTL |
Louise Daugherty Added phenotypes 606159 Neurodegeneration with brain iron accumulation 3; 615604 L-ferritin deficiency, dominant and recessive; 600886 Hyperferritinemia-cataract syndrome for gene: FTL Publications for gene FTL were changed from 20511138; 29797321; 12547246; Neuroferritinopathy GeneReviews 2018; 23421845 to 18413574; 23940258; 23421845; 19176363 |
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Iron metabolism disorders - NOT common HFE mutations v0.7 | FTL | Louise Daugherty Source London South GLH was added to FTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.6 | FTL | Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.5 | FTL | Carl Fratter reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.4 | FTL | Louise Daugherty Source NHS GMS was added to FTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.3 | FTL |
Louise Daugherty Source Expert Review Green was added to FTL. Mode of inheritance for gene FTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; LFTD; 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 for gene: FTL Publications for gene FTL were changed from to 20511138; 29797321; 12547246; Neuroferritinopathy GeneReviews 2018; 23421845 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Iron metabolism disorders - NOT common HFE mutations v0.2 | FTL |
Louise Daugherty gene: FTL was added gene: FTL was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: FTL was set to |