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  3. PYCR1
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Miscellaneous Metabolic Disorders

Gene: PYCR1

Green List (high evidence)
PYCR1 (pyrroline-5-carboxylate reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000183010
EnsemblGeneIds (GRCh37): ENSG00000183010
OMIM: 179035, Gene2Phenotype
PYCR1 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). PYCR1 deficiency causes an inborn error of proline metabolism.
Sources: NHS GMS
Created: 8 Feb 2021, 4:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438; Disorders of ornithine or proline metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 8 Feb 2021, 4:01 a.m.

Panel version: 0.319

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB MIM#612940
  • Cutis laxa, autosomal recessive, type IIIB MIM#614438
  • Disorders of ornithine or proline metabolism
OMIM
179035
Clinvar variants
Variants in PYCR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pycr1 has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pycr1 has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PYCR1 was added gene: PYCR1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 19576563; 27604308 Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438; Disorders of ornithine or proline metabolism Review for gene: PYCR1 was set to GREEN gene: PYCR1 was marked as current diagnostic