Mitochondrial disorders
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
Gene: pycr1 has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for PYCR1 were set to Cutis laxa, autosomal recessive, type IIB, 612940; Cutis laxa, autosomal recessive, type IIIB, 614438
Mode of inheritance for PYCR1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PYCR1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen