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Intellectual disability

Gene: PTPN23

Green List (high evidence)

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

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added disease association from OMIM.
Created: 15 Jul 2020, 2:19 p.m. | Last Modified: 15 Jul 2020, 2:19 p.m.
Panel Version: 3.174

Sarah Leigh (Genomics England Curator)

Comment on publications: PMID 25558065, first report of PTPN23 homozygous variant (NM_015466.2:c.3995G>T:p.R1332L) in third child of first cousin parents (older sibs died in infancy); 5 year old boy with developmental delay, cerebral palsy, seizure disorder and gastroesophageal reflux disease.
Created: 31 Jul 2018, 12:40 p.m.
Comment on publications: PMID 25558065, first report of PTPN23 homozygous variant (NM_015466.2:c.3995G>T:p.R1332L) in third child of first cousin parents (older sibs died in infancy); 5 year old boy with developmental delay, cerebral palsy, seizure disorder and gastroesophageal reflux disease.
Created: 31 Jul 2018, 12:40 p.m.

Louise Daugherty (Genomics England Curator)

Comment on list classification: New Green gene added by external expert review, who notes individuals from 4 families reported with bi-allelic variants in PTPN23, ID is part of the phenotype
Created: 26 Jul 2018, 12:18 p.m.
Comment on phenotypes: added phenotypes from paper
Created: 26 Jul 2018, 12:16 p.m.
PMID: 29899372 report provides the first description of the clinical phenotype of recessive PTPN23 variants with pathogenicity substantiated by a functional study.
Created: 26 Jul 2018, 12:09 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Individuals from 4 families reported with bi-allelic variants in this gene, ID is part of the phenotype.
Created: 22 Jun 2018, 2:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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,
OMIM
606584
Clinvar variants
Variants in PTPN23
Penetrance
None
Publications
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; Intellectual disability; Severe developmental delay, to 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,

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to PTPN23.

31 Jul 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PTPN23 were set to 29899372; 29090338; 25558065

31 Jul 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PTPN23 were set to 29899372; 29090338; 25558065

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: ptpn23 has been classified as Green List (High Evidence).

26 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PTPN23 were set to Developmental epileptic encephalopathy with hypomyelination and brain atrophy; Intellectual disability; Severe developmental delay,

26 Jul 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PTPN23 were set to 29899372; 29090338

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

PTPN23 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

PTPN23 was created by Zornitza Stark