GPT2

glutamic--pyruvic transaminase 2
OMIM: 138210
PanelMode of inheritanceDetails
1 panel
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
Microcephaly, Mental retardation, autosomal recessive 49, 138210, Intellectual disability, Progressive spasticity