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  3. POR
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Skeletal dysplasia

Gene: POR

Green List (high evidence)
POR (cytochrome p450 oxidoreductase)
EnsemblGeneIds (GRCh38): ENSG00000127948
EnsemblGeneIds (GRCh37): ENSG00000127948
OMIM: 124015, Gene2Phenotype
POR is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 7 Feb 2021, 3:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571

Publications

Created: 7 Feb 2021, 3:02 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.280

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27068427: notes patients had PORD (P450 oxidoreductase deficiency) where Antley-Bixler syndrome is the name given to the severe form.
Created: 15 Dec 2020, 3:30 a.m. | Last Modified: 15 Dec 2020, 3:30 a.m.
Panel Version: 0.5665

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571

Publications

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

Created: 15 Dec 2020, 3:30 a.m.
Last Modified: 15 Dec 2020, 3:30 a.m.
Panel version: Imported from Mendeliome panel version 0.5665

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
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
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POR was added gene: POR was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571