Possible mitochondrial disorder - nuclear genes
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
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIB, 612940; Cutis laxa, autosomal recessive, type IIIB, 614438
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 2 Mar 2016, 1:53 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for cutis laxa, autosomal recessive, type IIB.Created: 2 Mar 2016, 1:53 p.m.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIIB, 614438
- Cutis laxa, autosomal recessive, type IIB, 612940
- OMIM
- 179035
- Clinvar variants
- Variants in PYCR1
- Penetrance
- None
- Panels with this gene
-
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Osteogenesis imperfecta
- Pneumothorax - familial
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PYCR1 was added gene: PYCR1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940