Inherited white matter disorders

Gene: PYCR2

Green List (high evidence)

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

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Sufficient cases. Presents with leukodystrophy and significant developmental problems.
Created: 2 Jan 2018, 3:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 10 616420

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Leukodystrophy, hypomyelinating, 10 616420
OMIM
616406
Clinvar variants
Variants in PYCR2
Penetrance
None
Panels with this gene

History Filter Activity

2 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Jan 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Jan 2018, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

PYCR2 was added to Inherited white matter disorders panel. Sources: Other

2 Jan 2018, Gel status: 1

Created

Helen Brittain (Genomics England Curator)

PYCR2 was created by Helen Brittain