Ataxia and cerebellar anomalies - narrow panel

Gene: CLP1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.

Panel Version: 3.30

Green List (high evidence)

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. A single variant was reported in Turkish families who shared an 11.5 Mb haplotype in the CLP1 region, this did not suggest a recent ancestory amongst seemingly unrelated families (PMID 24766809). Supportive functional studies and a mouse model were also reported.

Created: 18 Feb 2021, 11:39 a.m. | Last Modified: 18 Feb 2021, 11:39 a.m.

Panel Version: 2.48

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 18 Feb 2021, 11:32 a.m. | Last Modified: 18 Feb 2021, 11:32 a.m.

Panel Version: 2.48

Publications

• 24766810

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, including mouse model.

Gene is rated Green on ID panel.

Created: 14 Feb 2021, 2:42 a.m. | Last Modified: 14 Feb 2021, 2:42 a.m.

Panel Version: 2.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 10, MIM# 615803

Publications

• 24766809
• 29307788