Genomics England

protein tyrosine phosphatase, non-receptor type 23

Panel	Mode of inheritance	Details
Filter panels4 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 7.0	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 Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890