This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
OI and decreasing bone density gp of SD - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIB 612940
- Cutis laxa, autosomal recessive, type IIIB 614438
- OMIM
- 179035
- Clinvar variants
- Variants in PYCR1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Osteogenesis imperfecta
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Pneumothorax - familial
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PYCR1 was added gene: PYCR1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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 IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438