Congenital adrenal hypoplasiaGene: CYP21A2
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
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.
CYP21A2 was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN