Ataxia and cerebellar anomalies - narrow panel
Gene: CLP1
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
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
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
Tag Q2_21_rating was removed from gene: CLP1.
Source Expert Review Green was added to CLP1. Source NHS GMS was added to CLP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: CLP1.
Gene: clp1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803 to Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Tag founder-effect tag was added to gene: CLP1.
Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 (#615803); Pontocerebellar Hypoplasia type 10 to Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803
Publications for gene: CLP1 were set to PMID: 24766810
Rebecca Foulger: Comment on list classification
Source Expert Review Red was added to CLP1. Added phenotypes Pontocerebellar hypoplasia 10 (#615803) for gene: CLP1 Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: CLP1 was added gene: CLP1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLP1 were set to PMID: 24766810 Phenotypes for gene: CLP1 were set to Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 10