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  3. CYBRD1
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Metal Metabolism Disorders

Gene: CYBRD1

Red List (low evidence)
CYBRD1 (cytochrome b reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000071967
EnsemblGeneIds (GRCh37): ENSG00000071967
OMIM: 605745, Gene2Phenotype
CYBRD1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Paucity of publications. One of the variants reported in PMID 15338274, p.Arg226His is present in over 1,000 hets in gnomad.
Created: 22 Jan 2021, 7:34 a.m. | Last Modified: 22 Jan 2021, 7:34 a.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Iron metabolism disease, MONDO:0002279, CYBRD1-related

Publications

Created: 22 Jan 2021, 7:34 a.m.
Last Modified: 22 Jan 2021, 7:34 a.m.
Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • Iron metabolism disease, MONDO:0002279, CYBRD1-related
OMIM
605745
Clinvar variants
Variants in CYBRD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYBRD1 were changed from Iron overload to Iron metabolism disease, MONDO:0002279, CYBRD1-related

22 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cybrd1 has been classified as Red List (Low Evidence).

22 Jan 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jan 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYBRD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cybrd1 has been classified as Red List (Low Evidence).

22 Jan 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYBRD1 was added gene: CYBRD1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: CYBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYBRD1 were set to 15338274; 27884173 Phenotypes for gene: CYBRD1 were set to Iron overload; NA IRON OVERLOAD; N/A Primary iron overload