Congenital adrenal hypoplasia

Gene: CYP21A2

Red List (low 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

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

Can present with salt-losing adrenal insufficiency but should be diagnosed on biochemistry as the most common form of congenital adrenal HYPERplasia. Care needed as variants may be difficult to interpret on high throughput sequencing on account of pseudogene.
Created: 7 Dec 2015, 1:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Sources
  • UKGTN
Phenotypes
  • Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
OMIM
613815
Clinvar variants
Variants in CYP21A2
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CYP21A2 was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN