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| Differences of Sex Development v0.87 | CYB5A | Zornitza Stark Marked gene: CYB5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.87 | CYB5A | Zornitza Stark Gene: cyb5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.87 | CYB5A | Zornitza Stark Phenotypes for gene: CYB5A were changed from Methemoglobinemia and ambiguous genitalia 250790 to Methemoglobinemia and ambiguous genitalia, MIM# 250790 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.86 | CYB5A | Zornitza Stark Classified gene: CYB5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.86 | CYB5A | Zornitza Stark Gene: cyb5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.72 | CYB5A |
Elena Savva gene: CYB5A was added gene: CYB5A was added to Disorders of Sex Differentiation. Sources: Expert list Mode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYB5A were set to PMID: 22170710; 32051920 Phenotypes for gene: CYB5A were set to Methemoglobinemia and ambiguous genitalia 250790 Review for gene: CYB5A was set to GREEN Added comment: PMID: 22170710 - 3 siblings with 46,XY DSD, sex steroid deficiency, female genitalia and a homozygous missense variant. Supported by LOF functional studies. Mineralocorticoids and glucocorticoids were normal. PMID: 32051920 - 1 female with a homozygous missense, no DSD but methemoglobinemia. All female genitalia are normal and she has had a normal female child. Paper reviews prior reports and notes an additional 2 unrelated homozygous reports of 46 XY DSD patients with normal Methemoglobin. All variants were rare/absent (gnomAD) and PTCs. Sources: Expert list |
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