Hereditary Spastic Paraplegia - paediatric
Gene: IRF2BPL
PMID: 30057031 - 7 patients with neurodevelopmental regression (5/7), progressive ataxia (5/7), seizures (7/7), spasticity (2/7), dystonia (3/7) and global devel delay (7/7). PTCs produced a more severe phenotype than missense. Onset was in childhood. Cerebellar changes also less frequently reported.
PMID: 30166628 - 11 patients with de novo PTCs with childhood neurological regression, epilepsy (7/11), hypotonia (5/11), dystonia (3/11), cerebellar atrophy (5/10). MRI showed CNS defects in 6/10 patients.
Sources: Expert listCreated: 6 Jul 2020, 3:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
Publications
Gene: irf2bpl has been classified as Amber List (Moderate Evidence).
Gene: irf2bpl has been classified as Amber List (Moderate Evidence).
gene: IRF2BPL was added gene: IRF2BPL was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IRF2BPL were set to PMID: 30057031; 30166628 Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 Review for gene: IRF2BPL was set to AMBER