Genomics England
GMS Panels
Panels
Genes and Entities

PYCR2

pyrroline-5-carboxylate reductase 2
OMIM: 616406
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 10, 616420, intellectual disability, Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 10 616420