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Fetal anomalies

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 9 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Onset at birth or early infancy.

Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum.
Sources: Literature
Created: 3 Mar 2022, 1:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
OMIM
606584
Clinvar variants
Variants in PTPN23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Belinda Chong (Victorian Clinical Genetics Services)

gene: PTPN23 was added gene: PTPN23 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065 Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Review for gene: PTPN23 was set to GREEN gene: PTPN23 was marked as current diagnostic