Iron metabolism disorders - NOT common HFE mutations
Gene: ACVR1Comment on phenotypes: This phenotype does not appear to be relevant to this panel.Created: 3 Mar 2021, 10:15 a.m. | Last Modified: 3 Mar 2021, 10:15 a.m.
Panel Version: 1.29
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IRIDA
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IRIDA
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 GroupCreated: 29 May 2019, 1:30 p.m.
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 RedCreated: 28 May 2019, 2:08 p.m.
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 submittedCreated: 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: 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 submittedCreated: 13 Feb 2019, 12:39 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: ACVR1; 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: N/A new type of IRIDA; PMID(s): 28476747Created: 5 Feb 2019, 5:51 p.m.
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.
This protein is important in the bone morphogenic protein (BMP) pathway However not enough evidence is available
This gene can be coded RedCreated: 5 Feb 2019, 5:50 p.m.
Phenotypes for gene: ACVR1 were changed from new type of IRIDA; IRIDA to Fibrodysplasia ossificans progressiva OMIM:135100
Gene: acvr1 has been classified as Red List (Low Evidence).
Added phenotypes IRIDA for gene: ACVR1
Source North West GLH was added to ACVR1.
Added phenotypes IRIDA for gene: ACVR1
Source Yorkshire and North East GLH was added to ACVR1.
Source NHS GMS was added to ACVR1.
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)
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