Ehlers Danlos syndrome with a likely monogenic cause
Gene: PYCR1EnsemblGeneIds (GRCh38): ENSG00000183010
EnsemblGeneIds (GRCh37): ENSG00000183010
OMIM: 179035, Gene2Phenotype
PYCR1 is in 12 panels
5 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PYCR1; Suggested initial gene rating: greenCreated: 3 Apr 2019, 3:41 p.m.
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Louise Daugherty (Genomics England Curator)
Added to panel as can present with clinical features overlapping EDSCreated: 11 May 2017, 8:30 a.m.
Comment on publications: Cutis laxa, autosomal recessive, type IIIB (ARCL3B) PMID: 19648921,4076251,22052856
Cutis laxa, autosomal recessive, type IIB (ARCL2B) PMID: 19576563, 19648921, 9648921, 22052856, 28294978 ARCreated: 11 May 2017, 8:29 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 11 May 2017, 8:27 a.m.
Comment on list classification: Promoted from Red to Green due to evidence in the literature and it is a confirmed DD gene for cutis laxa, autosomal recessive, type IIB.
Created: 11 May 2017, 8:27 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IIIB, OMIM:614438
- Cutis laxa, autosomal recessive, type IIB, OMIM:612940
- OMIM
- 179035
- Clinvar variants
- Variants in PYCR1
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 to Cutis laxa, autosomal recessive, type IIIB, OMIM:614438; Cutis laxa, autosomal recessive, type IIB, OMIM:612940
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PYCR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Upload gene information
Louise Daugherty (Genomics England Curator)PYCR1 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Set publications
Louise Daugherty (Genomics England Curator)Publications for PYCR1 were set to 19648921;4076251;22052856;19576563;19648921;9648921;22052856; 28294978
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for PYCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)PYCR1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)PYCR1 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list