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  3. PYCR1
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Skeletal dysplasia

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

3 reviews

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: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.319

Seb Lunke (Victorian Clinical Genetics Services)

Comment on publications: 19648921; 4076251; 22052856; 19576563; 19648921; 9648921; 22052856; 28294978; 27756598
Created: 8 Jul 2020, 6:15 a.m. | Last Modified: 8 Jul 2020, 6:15 a.m.
Panel Version: 0.3277
Created: 8 Jul 2020, 6:15 a.m.
Last Modified: 8 Jul 2020, 6:15 a.m.
Panel version: Imported from Mendeliome panel version 0.3277

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

Aortopathy/Connective tissue review

Variants in this gene are associated with Cutis Laxa:
Cutis laxa type 2 (ARCL2, [MIM 219200]) is an autosomal-recessive multisystem disorder with prominent connective-tissue features characterized by the appearance of premature aging, particularly wrinkled and lax skin with reduced elasticity.

GEL PanelApp: Green in EDS panel - clinical features overlapping EDS
Cutis laxa, autosomal recessive, type IIIB (ARCL3B) PMID: 19648921,4076251, 22052856
Cutis laxa, autosomal recessive, type IIB (ARCL2B) PMID: 19576563, 19648921, 9648921, 22052856, 28294978 AR

PMID: 27756598: a homozygous mutation in PYCR1 segregating in the family with the affected individuals with complex connective tissue disorder and severe intellectual disability.
Created: 8 Jul 2020, 12:55 a.m. | Last Modified: 8 Jul 2020, 6:16 a.m.
Panel Version: 0.3278

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 8 Jul 2020, 12:55 a.m.
Last Modified: 8 Jul 2020, 6:16 a.m.
Panel version: Imported from Mendeliome panel version 0.3267

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIB 614438
  • Cutis laxa, autosomal recessive, type IIB 612940
OMIM
179035
Clinvar variants
Variants in PYCR1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PYCR1 was added gene: PYCR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB 614438; Cutis laxa, autosomal recessive, type IIB 612940