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  3. CYB5A
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Differences of Sex Development

Gene: CYB5A

Green List (high evidence)
CYB5A (cytochrome b5 type A)
EnsemblGeneIds (GRCh38): ENSG00000166347
EnsemblGeneIds (GRCh37): ENSG00000166347
OMIM: 613218, Gene2Phenotype
CYB5A is in 4 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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
Created: 15 Jul 2020, 1:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methemoglobinemia and ambiguous genitalia 250790

Publications

Created: 15 Jul 2020, 1:38 a.m.

Panel version: 0.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Methemoglobinemia and ambiguous genitalia, MIM# 250790
OMIM
613218
Clinvar variants
Variants in CYB5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyb5a has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYB5A were changed from Methemoglobinemia and ambiguous genitalia 250790 to Methemoglobinemia and ambiguous genitalia, MIM# 250790

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyb5a has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

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