PYCR2

pyrroline-5-carboxylate reductase 2
OMIM: 616406
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 10, 616420, intellectual disability, Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 10 616420