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Mitochondrial disorders v1.387 PYCR1 Ellen McDonagh Classified gene: PYCR1 as Red List (low evidence)
Mitochondrial disorders v1.387 PYCR1 Ellen McDonagh Added comment: 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.
Mitochondrial disorders v1.387 PYCR1 Ellen McDonagh Gene: pycr1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.384 PYCR1 Carl Fratter reviewed gene: PYCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB, 612940, Cutis laxa, autosomal recessive, type IIIB, 614438; Mode of inheritance: