Cerebellar and Pontocerebellar Hypoplasia
Gene: CLP1
Pontocerebellar hypoplasia type 10 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination. Some patients have dysmorphic features and an axonal sensorimotor neuropathy.
Multiple Turkish families reported with founder variant, p.Arg140His. Functional data.Created: 13 Feb 2021, 9:11 p.m. | Last Modified: 13 Feb 2021, 9:11 p.m.
Panel Version: 0.174
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 10, MIM# 615803
Publications
Gene: clp1 has been classified as Green List (High Evidence).
Publications for gene: CLP1 were set to 24766809
Phenotypes for gene: CLP1 were changed from to Pontocerebellar hypoplasia, type 10, MIM# 615803
Publications for gene: CLP1 were set to
Mode of inheritance for gene: CLP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag founder tag was added to gene: CLP1.
gene: CLP1 was added gene: CLP1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLP1 was set to Unknown