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Prepair 1000+

Gene: PYCR2

Green List (high evidence)

PYCR2 (pyrroline-5-carboxylate reductase 2)
EnsemblGeneIds (GRCh38): ENSG00000143811
EnsemblGeneIds (GRCh37): ENSG00000143811
OMIM: 616406, Gene2Phenotype
PYCR2 is in 7 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Onset at birth or in first months of life, death often occurs in first decade (OMIM)
- Neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging.
- More than 10 unrelated families reported.
Created: 7 Jan 2025, 2:59 a.m. | Last Modified: 7 Jan 2025, 2:59 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating 10 (MIM# 616420)

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 10, MIM#616420
OMIM
616406
Clinvar variants
Variants in PYCR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pycr2 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PYCR2 were changed from Leukodystrophy, hypomyelinating, 10, 616420 (3) to Leukodystrophy, hypomyelinating, 10, MIM#616420

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PYCR2 were set to

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: PYCR2 was added gene: PYCR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10, 616420 (3)