Mitochondrial disorders
Gene: PYCR1

PYCR1 (pyrroline-5-carboxylate reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000183010
EnsemblGeneIds (GRCh37): ENSG00000183010
OMIM: 179035, Gene2Phenotype
PYCR1 is in 12 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

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

Created: 11 Jun 2019, 3:59 p.m.

Panel version: 1.384

Ellen McDonagh (Genomics England Curator)

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.

Created: 2 Mar 2016, 1:53 p.m.

Panel version: 0.464

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Feb 2016, 9:16 p.m.

Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Cutis laxa, autosomal recessive, type IIB, 612940
Cutis laxa, autosomal recessive, type IIIB, 614438

OMIM

179035

Clinvar variants

Variants in PYCR1

Penetrance

Complete

Panels with this gene