Cerebellar and Pontocerebellar Hypoplasia
Gene: CLP1

CLP1 (cleavage and polyadenylation factor I subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000172409
EnsemblGeneIds (GRCh37): ENSG00000172409
OMIM: 608757, Gene2Phenotype
CLP1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 13 Feb 2021, 9:11 p.m.
Last Modified: 13 Feb 2021, 9:11 p.m.
Panel version: 0.178

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Pontocerebellar hypoplasia, type 10, MIM# 615803

Tags

founder

OMIM

608757

Clinvar variants

Variants in CLP1

Penetrance

None

Publications

Panels with this gene