Hypertension and Aldosterone disorders
Gene: CYP21A2EnsemblGeneIds (GRCh38): ENSG00000231852
EnsemblGeneIds (GRCh37): ENSG00000231852
OMIM: 613815, Gene2Phenotype
CYP21A2 is in 8 panels
1 review
Chirag Patel (Genetic Health Queensland)
Well established gene-disease association. Beware pseudogene and structural variants make NGS data difficult to interpret.
Sources: Expert listCreated: 24 Nov 2022, 4:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
- Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
- OMIM
- 613815
- Clinvar variants
- Variants in CYP21A2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyp21a2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: cyp21a2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: CYP21A2 was added gene: CYP21A2 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Review for gene: CYP21A2 was set to GREEN