Research panel - Severe Paediatric Disorders
Gene: CYP21A2

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CYP21A2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3) | Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:18 p.m.
Last Modified: 20 Feb 2020, 5:18 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

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

30847515

Panels with this gene