Iron metabolism disorders - NOT common HFE mutations

Gene: ACVR1

Comment 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

Red List (low evidence)

I don't know

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

I don't know

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

I don't know

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

Created: 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 Red

Created: 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 submitted

Created: 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 submitted

Created: 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): 28476747

Created: 5 Feb 2019, 5:51 p.m.

Green List (high evidence)

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 Red

Created: 5 Feb 2019, 5:50 p.m.