Mackenzie's Mission_Reproductive Carrier Screening

Gene: PTPN23

Green List (high evidence)

Severe phenotype and there is sufficient evidence for gene-phenotype relationship.

Created: 6 Dec 2020, 5:37 a.m. | Last Modified: 6 Dec 2020, 5:37 a.m.

Panel Version: 0.49

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, 3:57 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

• 31395947
• 29899372
• 29090338
• 27848944
• 25558065