PYCR2

pyrroline-5-carboxylate reductase 2
OMIM: 616406
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
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:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 10 616420