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  3. PYCR1
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene disease association with reported individuals having an inborn error of proline metabolism.

Classified as Definitive by ClinGen Aminoacidopathy GCEP on 21/05/2020
https://search.clinicalgenome.org/CCID:005936
Sources: ClinGen
Created: 9 Jul 2024, 3:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive cutis laxa type 2B MONDO:0013051

Publications

Created: 9 Jul 2024, 3:51 a.m.

Panel version: 1.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • autosomal recessive cutis laxa type 2B MONDO:0013051
OMIM
179035
Clinvar variants
Variants in PYCR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2024, 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).

14 Jul 2024, 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).

9 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PYCR1 was added gene: PYCR1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 19576563; 19648921 Phenotypes for gene: PYCR1 were set to autosomal recessive cutis laxa type 2B MONDO:0013051 Review for gene: PYCR1 was set to GREEN