Osteogenesis imperfecta
Gene: PYCR1
PYCR1 (pyrroline-5-carboxylate reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000183010
EnsemblGeneIds (GRCh37): ENSG00000183010
OMIM: 179035, Gene2Phenotype
PYCR1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000183010
EnsemblGeneIds (GRCh37): ENSG00000183010
OMIM: 179035, Gene2Phenotype
PYCR1 is in 12 panels
3 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Chris Boustred (Genomics England)
Comment when marking as ready: Keep as red as disagreement between reviewers and query association with OICreated: 10 May 2016, 3:26 p.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
De Barsy syndromeCreated: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- OMIM
- 179035
- Clinvar variants
- Variants in PYCR1
- Penetrance
- Complete
- Panels with this gene
-
- Pneumothorax - familial
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Osteogenesis imperfecta
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Red List (Low Evidence).
23 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PYCR1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory