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Prepair 1000+

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multi-system connective tissue disorder with early onset.
Created: 24 Apr 2025, 2:59 a.m. | Last Modified: 24 Apr 2025, 2:59 a.m.
Panel Version: 1.2058

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB MIM#612940
  • Cutis laxa, autosomal recessive, type IIIB MIM#614438
OMIM
179035
Clinvar variants
Variants in PYCR1
Penetrance
None
Panels with this gene

History Filter Activity

24 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIB, 612940 (3) to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 IIB, 612940 (3)