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Mendeliome

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.
Sources: Expert list
Created: 22 Jan 2021, 7:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
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

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 Mendeliome. Sources: Expert list Mode of inheritance for gene: CYBRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYBRD1 were set to 15338274 Phenotypes for gene: CYBRD1 were set to Iron overload Review for gene: CYBRD1 was set to RED