Research panel - Severe Paediatric Disorders
Gene: PTPN23

PTPN23 (protein tyrosine phosphatase, non-receptor type 23)
EnsemblGeneIds (GRCh38): ENSG00000076201
EnsemblGeneIds (GRCh37): ENSG00000076201
OMIM: 606584, Gene2Phenotype
PTPN23 is in 4 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added disease association added in OMIM.
Created: 15 Jul 2020, 2:18 p.m. | Last Modified: 15 Jul 2020, 2:18 p.m.

Panel Version: 1.10

Created: 15 Jul 2020, 2:18 p.m.
Last Modified: 15 Jul 2020, 2:18 p.m.
Panel version: 1.10

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PTPN23; Recommended initial gene rating: Green List (high evidence); Phenotypes: Developmental epileptic encephalopathy with hypomyelination and brain atrophy; Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:24 p.m.
Last Modified: 20 Feb 2020, 5:24 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Developmental epileptic encephalopathy with hypomyelination and brain atrophy
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890

OMIM

606584

Clinvar variants

Variants in PTPN23

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PTPN23 were changed from Developmental epileptic encephalopathy with hypomyelination and brain atrophy to Developmental epileptic encephalopathy with hypomyelination and brain atrophy; Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890

20 Feb 2020, Gel status: 3