Activity

Filter

Cancel
Date Panel Item Activity
38 actions
Iron metabolism disorders - NOT common HFE mutations v2.12 FTH1 Sarah Leigh Tag Q4_24_promote_green was removed from gene: FTH1.
Iron metabolism disorders - NOT common HFE mutations v2.12 FTH1 Sarah Leigh edited their review of gene: FTH1: Changed rating: AMBER
Iron metabolism disorders - NOT common HFE mutations v2.12 FTH1 Sarah Leigh changed review comment from: Three monoallelic terminating FTH1 variants (NM_002032: c.487_490 dupGAAT, (p.Ser164*), c.512_513delTT, (p.Phe171*), c.409_410del; p.H137fs*) have been associated with Neurodegeneration with brain iron accumulation 9 (OMIM: 620669)(PMID:37660254; 37265023) in six unrelated cases. Shieh et al (PMID:37660254), report patient fibroblasts studies, which indicate that variants c.487_490 dupGAAT and c.512_513delTT escape nonsense-mediated mRNA decay, resulting in a C-terminally truncated protein, which is predicted to have a dominant-negative effect. Molecular modeling predicts that this could reduce the iron-storage capacity, resulting in iron accumulation. Shieh et al go onto demonstrate that the targeted knockdown of the S164* FTH1 transcript, with antisense oligonucleotides in vitro partially rescued the abnormal cellular phenotype.; to: Three monoallelic terminating FTH1 variants (NM_002032: c.487_490 dupGAAT, (p.Ser164*), c.512_513delTT, (p.Phe171*), c.409_410del; p.H137fs*) have been associated with Neurodegeneration with brain iron accumulation 9 (OMIM: 620669)(PMID:37660254; 37265023) in six unrelated cases. Shieh et al (PMID:37660254), report patient fibroblasts studies, which indicate that variants c.487_490 dupGAAT and c.512_513delTT escape nonsense-mediated mRNA decay, resulting in a C-terminally truncated protein, which is predicted to have a dominant-negative effect. Molecular modeling predicts that this could reduce the iron-storage capacity, resulting in iron accumulation. Shieh et al go onto demonstrate that the targeted knockdown of the S164* FTH1 transcript, with antisense oligonucleotides in vitro partially rescued the abnormal cellular phenotype.
Table 1 in PMID: 37660254, shows that although FTH1 is an iron metabolism gene, the phenotype in the patients appears to include normal ferritin and iron measurements, except the accumulation in tissues such as the brain.
Iron metabolism disorders - NOT common HFE mutations v2.12 FTH1 Sarah Leigh Tag Q4_24_promote_green tag was added to gene: FTH1.
Iron metabolism disorders - NOT common HFE mutations v2.12 FTH1 Sarah Leigh Phenotypes for gene: FTH1 were changed from ?Hemochromatosis, type 5 OMIM:615517; hemochromatosis type 5 MONDO:0014225 to Neurodegeneration with brain iron accumulation 9, OMIM:620669; ?Hemochromatosis, type 5 OMIM:615517; hemochromatosis type 5 MONDO:0014225
Iron metabolism disorders - NOT common HFE mutations v2.11 FTH1 Sarah Leigh reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37660254, 37265023; Phenotypes: Neurodegeneration with brain iron accumulation 9, OMIM:620669; Mode of inheritance: None
Iron metabolism disorders - NOT common HFE mutations v2.11 FTH1 Sarah Leigh Classified gene: FTH1 as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v2.11 FTH1 Sarah Leigh Gene: fth1 has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v2.10 FTH1 Sarah Leigh Publications for gene: FTH1 were set to 11389486; 37660254; 37265023
Iron metabolism disorders - NOT common HFE mutations v2.9 FTH1 Sarah Leigh Publications for gene: FTH1 were set to 11389486
Iron metabolism disorders - NOT common HFE mutations v1.35 FTH1 Arina Puzriakova commented on gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v1.34 FTH1 Arina Puzriakova Source Expert Review Red was added to FTH1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v1.26 FTH1 Sarah Leigh Phenotypes for gene: FTH1 were changed from 615517 ?Hemochromatosis, type 5; HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 to ?Hemochromatosis, type 5 OMIM:615517; hemochromatosis type 5 MONDO:0014225
Iron metabolism disorders - NOT common HFE mutations v1.4 FTH1 Zornitza Stark reviewed gene: FTH1: Rating: RED; Mode of pathogenicity: None; Publications: 11389486; Phenotypes: Hemochromatosis, type 5, MIM# 615517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Iron metabolism disorders - NOT common HFE mutations v0.44 FTH1 Louise Daugherty changed review comment from: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.; to: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.43 FTH1 Louise Daugherty Classified gene: FTH1 as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v0.43 FTH1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.43 FTH1 Louise Daugherty Gene: fth1 has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.42 FTH1 Louise Daugherty commented on gene: FTH1: Discrepant reviews, to be discussed at July workshop to agree rating.
Iron metabolism disorders - NOT common HFE mutations v0.39 FTH1 Louise Daugherty commented on gene: FTH1: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Amber
Iron metabolism disorders - NOT common HFE mutations v0.37 FTH1 PATRICIA BIGNELL reviewed gene: FTH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.25 FTH1 Louise Daugherty commented on gene: FTH1: 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: FTH1; 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: 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.24 FTH1 Steve Keeney reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5, HFE5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.23 FTH1 Louise Daugherty Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v0.21 FTH1 Louise Daugherty Source North West GLH was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.20 FTH1 Louise Daugherty commented on gene: FTH1: 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: FTH1; 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: 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.15 FTH1 Mandy nesbitt reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5, HFE5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Iron metabolism disorders - NOT common HFE mutations v0.14 FTH1 Louise Daugherty Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v0.12 FTH1 Louise Daugherty Source Yorkshire and North East GLH was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.11 FTH1 Louise Daugherty commented on gene: FTH1: 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: FTH1; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 615517 ?Hemochromatosis, type 5; PMID(s): 11389486
Iron metabolism disorders - NOT common HFE mutations v0.10 FTH1 Frances Smith reviewed gene: FTH1: Rating: RED; Mode of pathogenicity: ; Publications: 11389486; Phenotypes: 615517 ?Hemochromatosis, type 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.9 FTH1 Louise Daugherty Added phenotypes 615517 ?Hemochromatosis, type 5 for gene: FTH1
Iron metabolism disorders - NOT common HFE mutations v0.7 FTH1 Louise Daugherty Source London South GLH was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.6 FTH1 Louise Daugherty reviewed gene: FTH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 FTH1 Carl Fratter reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Iron metabolism disorders - NOT common HFE mutations v0.4 FTH1 Louise Daugherty Source NHS GMS was added to FTH1.
Iron metabolism disorders - NOT common HFE mutations v0.3 FTH1 Louise Daugherty Source Expert Review Green was added to FTH1.
Mode of inheritance for gene FTH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1
Publications for gene FTH1 were changed from to 11389486
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.2 FTH1 Louise Daugherty gene: FTH1 was added
gene: FTH1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FTH1 was set to