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  3. CYB5R3
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Red cell disorders

Gene: CYB5R3

Green List (high evidence)
CYB5R3 (cytochrome b5 reductase 3)
EnsemblGeneIds (GRCh38): ENSG00000100243
EnsemblGeneIds (GRCh37): ENSG00000100243
OMIM: 613213, Gene2Phenotype
CYB5R3 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 6 Sep 2021, 4:11 a.m. | Last Modified: 6 Sep 2021, 4:11 a.m.
Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methemoglobinaemia, type I and II, MIM# 250800

Publications

Created: 6 Sep 2021, 4:11 a.m.
Last Modified: 6 Sep 2021, 4:11 a.m.
Panel version: 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Methaemoglobinaemia, type I and II, MIM# 250800
OMIM
613213
Clinvar variants
Variants in CYB5R3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyb5r3 has been classified as Green List (High Evidence).

6 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYB5R3 were changed from Methemoglobinaemia, type I and II, MIM# 250800 to Methaemoglobinaemia, type I and II, MIM# 250800

6 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYB5R3 were changed from Methaemoglobinaemia; 250800 Methemoglobinemia; Methaemoglobinaemia type I and II, 250800; 250800 Methaemoglobinaemia type I and II to Methemoglobinaemia, type I and II, MIM# 250800

6 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYB5R3 were set to 18318771; 15921385

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Methaemoglobinaemia; 250800 Methemoglobinemia; Methaemoglobinaemia type I and II, 250800; 250800 Methaemoglobinaemia type I and II for gene: CYB5R3

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYB5R3 was added gene: CYB5R3 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYB5R3 were set to 18318771; 15921385 Phenotypes for gene: CYB5R3 were set to Methaemoglobinaemia type I and II, 250800; 250800 Methemoglobinemia; 250800 Methaemoglobinaemia type I and II; Methaemoglobinaemia