PTPN23

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber PTPN23 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890
Green PTPN23 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Green PTPN23 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Green PTPN23 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Green PTPN23 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PTPN23 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual disability brain abnormalities seizures optic atrophy microcephaly
Red PTPN23 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Green PTPN23 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Red PTPN23 in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890