PTPN23

protein tyrosine phosphatase, non-receptor type 23
OMIM: 606584, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green PTPN23 in Severe microcephaly Level 2: Neurology Version 8.43 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890
Green PTPN23 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890
Green PTPN23 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.173 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Rare severe autosomal-recessive developmental and epileptic encephalopathy Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890
Green PTPN23 in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature 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,