Craniosynostosis

Gene: POR

Green List (high evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

CSS documented in some cases. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis: 201750

Publications

Variants in this GENE are reported as part of current diagnostic practice

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: POR; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

Comment on list classification: Current diagnostic
Created: 1 Feb 2016, 11:24 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Mutations in combination hypomorphic (complete loss-of-function lethal)
Created: 14 Sep 2015, 1:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Antley-Bixler syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • 201750
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
OMIM
124015
Clinvar variants
Variants in POR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 for gene: POR

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to POR. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for POR were set to 201750

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for POR were set to 14758361

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

POR was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

POR was added to Craniosynostosis syndromespanel. Sources: Expert list