Differences in sex development

Gene: POR

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.

Created: 29 Apr 2019, 9:46 a.m.

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least thirteen variants reported in Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 and disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 both individually and in combination

Created: 12 Sep 2016, 1:07 p.m.

Comment on phenotypes: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis AR, 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 both relevant to this panel and these phenotypes are reported individually and in combination

Created: 12 Sep 2016, 1:04 p.m.

Green List (high evidence)

Variable steroidogenic defect usually affecting glucocorticoids rather than mineralocorticoids. May be atypical genitalia in 46,XY and 46,XX children. Often associated with skeletal phneotype of Antley Bixler syndrome, with craniosynostosis, radioulnar defects etc. Mild form may have PCOS.

Created: 4 Feb 2016, 2:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Antley-Bixler syndrome