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Newborns main panel

Gene: CYP21A2

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Variants not reliably detected by current pipeline. Special caller required but available caller is not suitable.
Created: 4 Nov 2024, 3:19 p.m. | Last Modified: 4 Nov 2024, 3:19 p.m.
Panel Version: 0.469
Additional Information: Affected females may have DSD.
Created: 25 Sep 2024, 10 a.m. | Last Modified: 25 Sep 2024, 10 a.m.
Panel Version: 0.469
Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.
Created: 24 May 2024, 9:44 a.m. | Last Modified: 24 May 2024, 9:44 a.m.
Panel Version: 0.455
Created: 24 May 2024, 9:44 a.m.
Last Modified: 24 May 2024, 9:44 a.m.
Panel version: 0.469

Ivone Leong (Genomics England Curator)

Comment on list classification: Promote from Amber to Green as the special caller for CYP21A2 and the internal inclusion list are ready.
Created: 28 Feb 2024, 11:55 a.m. | Last Modified: 28 Feb 2024, 11:55 a.m.
Panel Version: 0.452
Comment on list classification: Demoting from Green to Amber as the special caller for CYP21A2 is currently not ready yet.
Created: 31 Jan 2024, 2:29 p.m. | Last Modified: 31 Jan 2024, 2:29 p.m.
Panel Version: 0.277
Created: 31 Jan 2024, 2:29 p.m.
Last Modified: 31 Jan 2024, 2:29 p.m.
Panel version: 0.277

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
will need algorithm due to pseudogene. Here is guideline from GOSH PMID: 33272921
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Tags
internal_inclusion_list_only special_caller_only
OMIM
613815
Clinvar variants
Variants in CYP21A2
Penetrance
None
Panels with this gene

History Filter Activity

24 May 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).

28 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cyp21a2 has been classified as Green List (High Evidence).

31 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).

15 Nov 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: cyp21a2 has been classified as Green List (High Evidence).

15 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: cyp21a2 has been classified as Amber List (Moderate Evidence).

26 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: CYP21A2.

27 Sep 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag special_caller_only tag was added to gene: CYP21A2.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital adrenal hyperplasia due to 21-hydroxylase deficiency for gene: CYP21A2

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital adrenal hyperplasia due to 21-hydroxylase deficiency for gene: CYP21A2

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CYP21A2. Added phenotypes Congenital adrenal hyperplasia due to 21-hydroxylase deficiency for gene: CYP21A2 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CYP21A2. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Congenital adrenal hyperplasia due to 21-hydroxylase deficiency for gene: CYP21A2

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CYP21A2 was added gene: CYP21A2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal