Congenital adrenal hypoplasiaGene: POMC
Usually causes secondary adrenal hypoplasia (central, with low ACTH) but can have high ACTH in serum if a specific point mutation causes bioinactive ACTH. Therefore, can be misdiagnosed as primary adrenal hypoplasia, but only one report to date.
Created: 4 Feb 2016, 4:31 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.
POMC was added to Congenital adrenal hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen