PTPN23

protein tyrosine phosphatase, non-receptor type 23
OMIM: 606584
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rare severe autosomal-recessive developmental and epileptic encephalopathy
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
Developmental epileptic encephalopathy with hypomyelination and brain atrophy, Intellectual disability, Severe developmental delay,