Iron metabolism disorders

Gene: CYBRD1

Green List (high evidence)

CYBRD1 (cytochrome b reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000071967
EnsemblGeneIds (GRCh37): ENSG00000071967
OMIM: 605745, Gene2Phenotype
CYBRD1 is in 1 panel

8 reviews

Sarah Leigh (Genomics England Curator)

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.
Created: 2 Mar 2021, 5:17 p.m. | Last Modified: 2 Mar 2021, 5:17 p.m.
Panel Version: 1.11

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Paucity of publications. Please note one of the variants reported in PMID 15338274, p.Arg226His is present in over 1,000 hets in gnomad.
Created: 22 Jan 2021, 7:33 a.m. | Last Modified: 22 Jan 2021, 7:33 a.m.
Panel Version: 1.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Iron overload

Publications

PATRICIA BIGNELL (Oxford Hospitals NHS Foundation Trust)

Green List (high evidence)

Frances Smith (King's College Hospital)

Green List (high evidence)

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

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
NA IRON OVERLOAD

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

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
N/A Primary iron overload

Publications

Louise Daugherty (Genomics England Curator)

I don't know

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
Created: 28 May 2019, 2:08 p.m.
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.
Created: 4 May 2019, 8:55 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: 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
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: 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
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: 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: none submitted; PMID(s): 15338274; 27884173
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.

3 independent reports where 3 probands had an iron overload phenotype
Created: 5 Feb 2019, 5:50 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • hereditary hemochromatosis MONDO:0006507
OMIM
605745
Clinvar variants
Variants in CYBRD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CYBRD1 were changed from hereditary hemochromatosis MONDO:0006507 to hereditary hemochromatosis MONDO:0006507

2 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload; Iron overload to hereditary hemochromatosis MONDO:0006507

4 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to CYBRD1.

4 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes NA IRON OVERLOAD for gene: CYBRD1

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CYBRD1.

13 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes N/A Primary iron overload for gene: CYBRD1

13 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CYBRD1.

5 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CYBRD1.

5 Feb 2019, Gel status: 3

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

Louise Daugherty (Genomics England Curator)

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)

5 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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