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  3. CYP21A2
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Congenital adrenal hyperplasia diagnostic test

Gene: CYP21A2

Green List (high evidence)
CYP21A2 (cytochrome P450 family 21 subfamily A member 2)
EnsemblGeneIds (GRCh38): ENSG00000231852
EnsemblGeneIds (GRCh37): ENSG00000231852
OMIM: 613815, Gene2Phenotype
CYP21A2 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #201910) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 11:21 p.m. | Last Modified: 17 Dec 2025, 11:21 p.m.
Panel Version: 1.2
CYP21A2 has been added to the panel for R180 Congenital adrenal hyperplasia diagnostic test with a green rating as agreed with the NHS Genomic Medicine Service
Created: 30 Jun 2023, 11:50 a.m. | Last Modified: 30 Jun 2023, 11:50 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 11:50 a.m.
Last Modified: 30 Jun 2023, 11:50 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, OMIM:201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, OMIM:201910
  • classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, MONDO:0008728
OMIM
613815
Clinvar variants
Variants in CYP21A2
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CYP21A2 were changed from to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, OMIM:201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, OMIM:201910; classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, MONDO:0008728

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CYP21A2 was added gene: CYP21A2 was added to Congenital adrenal hyperplasia diagnostic test. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal