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  3. POR
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Arthrogryposis

Gene: POR

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Digital joint contractures (camptodactyly).
Created: 15 Dec 2020, 9:26 a.m. | Last Modified: 15 Dec 2020, 9:26 a.m.
Panel Version: 0.246

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750

Created: 15 Dec 2020, 9:26 a.m.
Last Modified: 15 Dec 2020, 9:26 a.m.
Panel version: 0.246

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750
OMIM
124015
Clinvar variants
Variants in POR
Penetrance
None
Panels with this gene

History Filter Activity

15 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POR were changed from to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750

15 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POR was added gene: POR was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POR was set to Unknown