Likely inborn error of metabolism - targeted testing not possible
Gene: PYCR1
Red - not considered a primary mitochondrial disorder; PYCR1 (pyrroline-5-carboxulate reductase) is a mitochondrial enzyme that catalyses the final step of proline biosynthesis.Created: 11 Jun 2019, 3:59 p.m.
Phenotypes
Cutis laxa, autosomal recessive, type IIB, 612940; Cutis laxa, autosomal recessive, type IIIB, 614438
Comment on list classification: Demoted from Green to Red due to review from the GMS mitochondrial specialist group review, submitted by Carl Fratter on 11th June 2019, and agreement with Anna De Burca and Helen Brittain in the Genomics England Clinical Team on 14th June 2019. This is not considered a mitochondrial disease and is covered as Green by other gene panels.Created: 14 Jun 2019, 10:15 a.m.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source: Expert Review Red was removed from gene: PYCR1
Source NHS GMS was added to PYCR1. Source London North GLH was added to PYCR1.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 for gene: PYCR1
gene: PYCR1 was added gene: PYCR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 27604308 Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism); Cutis laxa, autosomal recessive, type IIB, 612940