Extreme early-onset hypertension

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

Fiona Karet (Universit y of Cambridge)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
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
Complete
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

3 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910

3 Aug 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CYP21A2 was changed to BIALLELIC, autosomal or pseudoautosomal

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

CYP21A2 was added to Extreme early-onset hypertensionpanel. Sources: Expert