Rare anaemia
Gene: CYB5A
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; 8168836Created: 8 Feb 2019, 3:49 p.m.
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
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
Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A Publications for gene CYB5A were changed from to 8168836; 20080843
Source NHS GMS was added to CYB5A.
gene: CYB5A was added gene: CYB5A was added to Rare anaemia. Sources: London South GLH Mode of inheritance for gene: CYB5A was set to