Iron metabolism disorders

Gene: ACVR1

Red List (low evidence)

ACVR1 (activin A receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 10 panels

6 reviews

Sarah Leigh (Genomics England Curator)

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

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

Red List (low evidence)

Steve Keeney (Central Manchester Foundation Trust)

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

Mandy nesbitt (Healthcare Professional)

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

Louise Daugherty (Genomics England Curator)

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.

Carl Fratter (Oxford University Hospitals NHS Trust)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Fibrodysplasia ossificans progressiva OMIM:135100
OMIM
102576
Clinvar variants
Variants in ACVR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ACVR1 were changed from new type of IRIDA; IRIDA to Fibrodysplasia ossificans progressiva OMIM:135100

29 May 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: acvr1 has been classified as Red List (Low Evidence).

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes IRIDA for gene: ACVR1

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to ACVR1.

13 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes IRIDA for gene: ACVR1

13 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ACVR1.

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACVR1.

5 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

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)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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