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Severe microcephaly

Gene: PTPN23

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: Expert list
Created: 3 Sep 2020, 3:22 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PTPN23 was added gene: PTPN23 was added to Severe microcephaly. Sources: Expert list 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