Red cell disorders
Gene: CYB5A
6 individuals from 4 unrelated families reported with bi-allelic (missense, nonsense and splice) variants.
PMID: 3951505- First patient reported with methemoglobinaemia and ambiguous genitalia.
PMID: 22170710 & 20080843- 4 individuals (3 siblings) with 46, XY DSD displayed elevated methemoglobin levels. However, methemoglobinaemia was clinically inapparent, with no evidence of episodes of cyanosis (blue skin), shortness of breath, or respiratory distress in any of them.
PMID: 32051920- 1 female reported with Isolated 17,20-Lyase Deficiency and methemoglobinaemia but no DSD.Created: 16 Sep 2021, 1:42 a.m. | Last Modified: 16 Sep 2021, 1:42 a.m.
Panel Version: 0.153
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methemoglobinaemia and ambiguous genitalia MIM#250790
Publications
Gene: cyb5a has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CYB5A were changed from 250790 Methemoglobinemia and ambiguous genitalia to Methemoglobinaemia and ambiguous genitalia MIM#250790
Publications for gene: CYB5A were set to 8168836; 20080843
Gene: cyb5a has been classified as Amber List (Moderate Evidence).
Added phenotypes 250790 Methemoglobinemia and ambiguous genitalia for gene: CYB5A Publications for gene CYB5A were updated from 20080843; 8168836 to 8168836; 20080843
gene: CYB5A was added gene: CYB5A was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYB5A were set to 20080843; 8168836 Phenotypes for gene: CYB5A were set to 250790 Methemoglobinemia and ambiguous genitalia