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| Iron metabolism disorders - NOT common HFE mutations v2.6 | CYBRD1 | Sarah Leigh Publications for gene: CYBRD1 were set to 15338274; 27884173 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v2.5 | CYBRD1 |
Sarah Leigh edited their review of gene: CYBRD1: Added comment: It would appear that there are no CYBRD1 rare SNVs associated with iron metabolism. However, PMID: 37632052 concludes that the coexistence of minor alleles of HDAC3 rs976552 and CYBRD1 rs884409 is linked with higher prevalence of hepatocellular carcinoma. Furthermore, HFE p.C282Y variant together with the CYBRD1 polymorphism rs884409 reduces CYBRD1 promoter activity by 30% (PMID: 19673882).; Changed rating: AMBER |
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| Iron metabolism disorders - NOT common HFE mutations v1.33 | CYBRD1 | Sarah Leigh Tag gene-checked tag was added to gene: CYBRD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v1.11 | CYBRD1 | Sarah Leigh Added comment: Comment on phenotypes: There is no OMIM, MONDO or ORPHANET disease association to this gene. The term hereditary hemochromatosis MONDO:0006507 was chosen as it represent the general disease described in the limited literature associated with this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v1.11 | CYBRD1 | Sarah Leigh Phenotypes for gene: CYBRD1 were changed from hereditary hemochromatosis MONDO:0006507 to hereditary hemochromatosis MONDO:0006507 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v1.10 | CYBRD1 | Sarah Leigh Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload; Iron overload to hereditary hemochromatosis MONDO:0006507 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v1.4 | CYBRD1 | Zornitza Stark reviewed gene: CYBRD1: Rating: RED; Mode of pathogenicity: None; Publications: 15338274; Phenotypes: Iron overload; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.39 | CYBRD1 | Louise Daugherty commented on gene: CYBRD1: 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 Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.37 | CYBRD1 | PATRICIA BIGNELL reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.34 | CYBRD1 | Louise Daugherty Source London South GLH was added to CYBRD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.33 | CYBRD1 | Louise Daugherty commented on gene: CYBRD1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.32 | CYBRD1 | Frances Smith reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.26 | CYBRD1 | Louise Daugherty Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload to NA IRON OVERLOAD; N/A Primary iron overload; Iron overload | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.25 | CYBRD1 | Louise Daugherty commented on gene: CYBRD1: 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: CYBRD1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: NA IRON OVERLOAD; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.24 | CYBRD1 | Steve Keeney reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA IRON OVERLOAD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.23 | CYBRD1 | Louise Daugherty Added phenotypes NA IRON OVERLOAD for gene: CYBRD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.21 | CYBRD1 | Louise Daugherty Source North West GLH was added to CYBRD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.20 | CYBRD1 | Louise Daugherty commented on gene: CYBRD1: 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: CYBRD1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Primary iron overload; PMID(s): 15338274 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.15 | CYBRD1 | Mandy nesbitt reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15338274; Phenotypes: N/A Primary iron overload; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.14 | CYBRD1 | Louise Daugherty Added phenotypes N/A Primary iron overload for gene: CYBRD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.12 | CYBRD1 | Louise Daugherty Source Yorkshire and North East GLH was added to CYBRD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.6 | CYBRD1 | Louise Daugherty reviewed gene: CYBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.5 | CYBRD1 | Carl Fratter reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.4 | CYBRD1 | Louise Daugherty Source NHS GMS was added to CYBRD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.3 | CYBRD1 |
Louise Daugherty Source Expert Review Green was added to CYBRD1. Mode of inheritance for gene CYBRD1 was changed from to BIALLELIC, autosomal or pseudoautosomal Publications for gene CYBRD1 were changed from to 15338274; 27884173 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 | CYBRD1 |
Louise Daugherty gene: CYBRD1 was added gene: CYBRD1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CYBRD1 was set to |
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