Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: POR
CSS documented in some cases. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 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
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: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment on list classification: Current diagnosticCreated: 1 Feb 2016, 11:24 a.m.
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
Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 for gene: POR
Source NHS GMS was added to POR. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for POR were set to 201750
Publications for POR were set to 14758361
Mode of inheritance for POR was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
POR was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
POR was added to Craniosynostosis syndromespanel. Sources: Expert list