Hereditary ataxia
Gene: CLP1EnsemblGeneIds (GRCh38): ENSG00000172409
EnsemblGeneIds (GRCh37): ENSG00000172409
OMIM: 608757, Gene2Phenotype
CLP1 is in 9 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: 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, 12:15 p.m. | Last Modified: 18 Feb 2021, 12:15 p.m.
Panel Version: 1.209
emma baple (Genomics England Curator)
Comment when marking as ready: Only a Turkish founder mutation identified to dateCreated: 11 Jul 2016, 5:19 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Reasonable evidence for a single variant in PCH10Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 10 (#615803)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pontocerebellar hypoplasia 10 OMIM:615803
- Pontocerebellar hypoplasia type 10 MONDO:0014349
- Tags
- OMIM
- 608757
- Clinvar variants
- Variants in CLP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CLP1 were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: clp1 has been classified as Green List (High Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag founder-effect tag was added to gene: CLP1.
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)CLP1 was added to Hereditary ataxiapanel. Sources: Expert Review
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)CLP1 was created by jonathan.williams