Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: POR

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

14758361

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

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

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.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Richard Scott (Genomics England Curator)

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

Created: 1 Feb 2016, 11:24 a.m.

Panel version: 0.95

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

14758361

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

Created: 14 Sep 2015, 1:49 p.m.

Panel version: 0

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

14758361

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