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Iron metabolism disorders - NOT common HFE mutations v1.29 ACVR1 Sarah Leigh Added comment: Comment on phenotypes: This phenotype does not appear to be relevant to this panel.
Iron metabolism disorders - NOT common HFE mutations v1.29 ACVR1 Sarah Leigh Phenotypes for gene: ACVR1 were changed from new type of IRIDA; IRIDA to Fibrodysplasia ossificans progressiva OMIM:135100
Iron metabolism disorders - NOT common HFE mutations v0.40 ACVR1 Louise Daugherty Classified gene: ACVR1 as Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v0.40 ACVR1 Louise Daugherty Added comment: Comment on list classification: Demoted from Green to Red. Initial Green gene submitted by one GLH (Carl Fratter Wessex and the West Midlands GLH), subsequently after the GMS Haematology Specialist Test Group webex call 8th March 2019 Patricia Bignell (Wessex and the West Midlands GLH) reviewed gene again and suggested downgrading to Red (webex 8.03.19 WWMGLH comments v1.doc). This is supported by the other GLHs in the Haematology Specialist Test Group
Iron metabolism disorders - NOT common HFE mutations v0.40 ACVR1 Louise Daugherty Gene: acvr1 has been classified as Red List (Low Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.39 ACVR1 Louise Daugherty commented on gene: ACVR1: 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 Red
Iron metabolism disorders - NOT common HFE mutations v0.37 ACVR1 PATRICIA BIGNELL reviewed gene: ACVR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.25 ACVR1 Louise Daugherty commented on gene: ACVR1: 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: ACVR1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.24 ACVR1 Steve Keeney reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.23 ACVR1 Louise Daugherty Added phenotypes IRIDA for gene: ACVR1
Iron metabolism disorders - NOT common HFE mutations v0.21 ACVR1 Louise Daugherty Source North West GLH was added to ACVR1.
Iron metabolism disorders - NOT common HFE mutations v0.20 ACVR1 Louise Daugherty commented on gene: ACVR1: 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: ACVR1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A IRIDA; PMID(s): none submitted
Iron metabolism disorders - NOT common HFE mutations v0.15 ACVR1 Mandy nesbitt reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: IRIDA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Iron metabolism disorders - NOT common HFE mutations v0.14 ACVR1 Louise Daugherty Added phenotypes IRIDA for gene: ACVR1
Iron metabolism disorders - NOT common HFE mutations v0.12 ACVR1 Louise Daugherty Source Yorkshire and North East GLH was added to ACVR1.
Iron metabolism disorders - NOT common HFE mutations v0.6 ACVR1 Louise Daugherty reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.5 ACVR1 Carl Fratter reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.4 ACVR1 Louise Daugherty Source NHS GMS was added to ACVR1.
Iron metabolism disorders - NOT common HFE mutations v0.3 ACVR1 Louise Daugherty Source Expert Review Green was added to ACVR1.
Mode of inheritance for gene ACVR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes new type of IRIDA for gene: ACVR1
Publications for gene ACVR1 were changed from to 28476747
Rating Changed from Red List (low evidence) to Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.2 ACVR1 Louise Daugherty gene: ACVR1 was added
gene: ACVR1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ACVR1 was set to