1. Panels
  2. Renal Tubulopathies and related disorders
  3. CYP21A2
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Tubulopathies and related disorders

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 8 panels

3 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established gene-disease association. Beware pseudogene and structural variants make NGS data difficult to interpret.
Sources: Expert list
Created: 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

Created: 24 Nov 2022, 4:57 a.m.

Panel version: Imported from Hypertension and Aldosterone disorders panel version 1.8

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Beware pseudogene and structural variants make NGS data difficult to interpret.
Created: 28 Feb 2020, 6 a.m. | Last Modified: 28 Feb 2020, 6 a.m.
Panel Version: 0.1487
Created: 28 Feb 2020, 6 a.m.
Last Modified: 28 Feb 2020, 6 a.m.
Panel version: Imported from Metabolic renal disease panel version Imported from Mendeliome panel version 0.1487

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene commonly undergoes gene conversion with CYP21A1P - but NCBI notes "gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency."
Created: 27 Feb 2020, 11:01 p.m. | Last Modified: 27 Feb 2020, 11:01 p.m.
Panel Version: 0.1473

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

Created: 27 Feb 2020, 11:01 p.m.
Last Modified: 27 Feb 2020, 11:01 p.m.
Panel version: Imported from Metabolic renal disease panel version Imported from Mendeliome panel version 0.1473

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
OMIM
613815
Clinvar variants
Variants in CYP21A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP21A2 was added gene: CYP21A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP21A2 were set to 11397897; 12930931; 12915679 Phenotypes for gene: CYP21A2 were set to Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910