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  3. CYB5A
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Rare anaemia

Gene: CYB5A

Red List (low evidence)
CYB5A (cytochrome b5 type A)
EnsemblGeneIds (GRCh38): ENSG00000166347
EnsemblGeneIds (GRCh37): ENSG00000166347
OMIM: 613218, Gene2Phenotype
CYB5A is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CYB5A; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 250790 Methemoglobinemia and ambiguous genitalia; PMID(s): 20080843; 8168836
Created: 8 Feb 2019, 3:49 p.m.
Created: 8 Feb 2019, 3:49 p.m.

Panel version: 0.11

Frances Smith (King's College Hospital)

Red List (low evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 3:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
250790 Methemoglobinemia and ambiguous genitalia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Feb 2019, 3:46 p.m.

Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • 250790 Methemoglobinemia and ambiguous genitalia
OMIM
613218
Clinvar variants
Variants in CYB5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to CYB5A. Mode of inheritance for gene CYB5A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A

8 Feb 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A Publications for gene CYB5A were changed from to 8168836; 20080843

8 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CYB5A.

8 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CYB5A was added gene: CYB5A was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: CYB5A was set to