Ehlers Danlos syndrome with a likely monogenic cause
Gene: PYCR1
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.
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.
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
Source NHS GMS was added to PYCR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
PYCR1 was added to Ehlers-Danlos syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services
Publications for PYCR1 were set to 19648921;4076251;22052856;19576563;19648921;9648921;22052856; 28294978
Mode of inheritance for PYCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PYCR1 was created by ellenmcdonagh
PYCR1 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list