Pneumothorax - familial
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cutis laxa
- OMIM
- 179035
- Clinvar variants
- Variants in PYCR1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Ehlers Danlos syndrome with a likely monogenic cause
- Mitochondrial disorders
- Pneumothorax - familial
- Fetal anomalies
History Filter Activity
9 Feb 2017, Gel status: 1
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/02/17 - Panel revised according to expert review, literature searches and clinical review.
18 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Sep 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
8 Sep 2016, Gel status: 0
Added New Source
Stefan Marciniak (University of Cambridge)PYCR1 was added to Familial Pneumothoraxpanel. Sources: Expert list
8 Sep 2016, Gel status: 0
Created
Stefan Marciniak (University of Cambridge)PYCR1 was created by [email protected]