PYCR1

pyrroline-5-carboxylate reductase 1
OMIM: 179035, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red PYCR1 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.37
Latest signed off version: v2.17 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cutis laxa

Green PYCR1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.168
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIB 612940
    • Cutis laxa, autosomal recessive, type IIIB 614438

    Green PYCR1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.508

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism)
    • Cutis laxa, autosomal recessive, type IIB, 612940
    • Cutis laxa, autosomal recessive, type IIIB, 614438

    Green PYCR1 in Inborn errors of metabolism


    Version 2.221
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIB, 612940
    • Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism)
    • Cutis laxa, autosomal recessive, type IIIB, 614438

    Red PYCR1 in Possible mitochondrial disorder - nuclear genes


    Version 1.64
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIIB, 614438
    • Cutis laxa, autosomal recessive, type IIB, 612940

    Green PYCR1 in Ehlers Danlos syndromes

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 2.64
    Latest signed off version: v2.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIIB, OMIM:614438
    • Cutis laxa, autosomal recessive, type IIB, OMIM:612940

    Green PYCR1 in Fetal anomalies


    Version 1.826
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB

    Red PYCR1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias

    Green PYCR1 in DDG2P


    Version 2.60
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940

    Green PYCR1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1496
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIB, 612940
    • ARCL2B
    • Intellectual disability

    Red PYCR1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.85
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review 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

    Red PYCR1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.210
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PYCR1 in Severe Paediatric Disorders


    Version 1.115

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cutis laxa, autosomal recessive, type IIB, 612940
    • Cutis laxa, autosomal recessive, type IIIB, 614438