Disorders of sex development

Gene: POR

Green List (high evidence)

POR (cytochrome p450 oxidoreductase)
EnsemblGeneIds (GRCh38): ENSG00000127948
EnsemblGeneIds (GRCh37): ENSG00000127948
OMIM: 124015, Gene2Phenotype
POR is in 9 panels

3 reviews

Ivone Leong (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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.

John Achermann (UCL Institute of Child Health)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
OMIM
124015
Clinvar variants
Variants in POR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

POR was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

12 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

12 Sep 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POR were set to 15220035; 14758361

12 Sep 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for POR was changed to BIALLELIC, autosomal or pseudoautosomal

20 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

20 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

POR was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

POR was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POR was added to Disorders of sex developmentpanel. Sources: UKGTN

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POR was created by ellenmcdonagh