Regression
Gene: CSF1R
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.
Four unrelated families reported.
Note mono-allelic variants cause an adult-onset disorder.Created: 5 Nov 2021, 1:54 a.m. | Last Modified: 5 Nov 2021, 1:54 a.m.
Panel Version: 0.381
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Publications
Gene: csf1r has been classified as Green List (High Evidence).
Phenotypes for gene: CSF1R were changed from to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Publications for gene: CSF1R were set to
Mode of inheritance for gene: CSF1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CSF1R was added gene: CSF1R was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CSF1R was set to Unknown