Hereditary ataxia
Gene: CLP1Comment 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
Comment when marking as ready: Only a Turkish founder mutation identified to dateCreated: 11 Jul 2016, 5:19 a.m.
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
Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Publications for gene: CLP1 were set to
Gene: clp1 has been classified as Green List (High Evidence).
Tag founder-effect tag was added to gene: CLP1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
CLP1 was added to Hereditary ataxiapanel. Sources: Expert Review
CLP1 was created by jonathan.williams