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Inborn errors of metabolism

Gene: POR

Green List (high evidence)

POR (cytochrome p450 oxidoreductase)
EnsemblGeneIds (GRCh38): ENSG00000127948
EnsemblGeneIds (GRCh37): ENSG00000127948
OMIM: 124015, Gene2Phenotype
POR is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants associated with Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 and 6 variants associated with Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571.
Created: 20 Aug 2019, 4:18 p.m. | Last Modified: 20 Aug 2019, 4:18 p.m.
Panel Version: 1.241

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
OMIM
124015
Clinvar variants
Variants in POR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: POR were set to 27604308

20 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: por has been classified as Green List (High Evidence).

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: POR were changed from Antley-Bixler syndrome with disordered steroidogenesis; Unexplained skeletal dysplasia; Disorders of sex development; Craniosynostosis syndromes phenotypes to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to POR. Source London North GLH was added to POR.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: POR was added gene: POR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POR were set to 27604308 Phenotypes for gene: POR were set to Antley-Bixler syndrome with disordered steroidogenesis; Unexplained skeletal dysplasia; Disorders of sex development; Craniosynostosis syndromes phenotypes