Genomics England
GMS Panels
Panels
Genes and Entities

PTPN23

protein tyrosine phosphatase, non-receptor type 23
OMIM: 606584
PanelMode of inheritanceDetails
3 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rare severe autosomal-recessive developmental and epileptic encephalopathy, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental epileptic encephalopathy with hypomyelination and brain, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 atrophy, Intellectual disability, Severe developmental delay,
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890