Disorders of sex development
Gene: POR
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 combinationCreated: 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 combinationCreated: 12 Sep 2016, 1:04 p.m.
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
POR was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for POR were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis AR, 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571
Publications for POR were set to 15220035; 14758361
Mode of inheritance for POR was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene POR were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis AR, 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571
POR was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
POR was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
POR was added to Disorders of sex developmentpanel. Sources: UKGTN
POR was created by ellenmcdonagh