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Hereditary ataxia v1.211 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
Hereditary ataxia v1.210 CLP1 Sarah Leigh Publications for gene: CLP1 were set to
Hereditary ataxia v1.209 CLP1 Sarah Leigh Classified gene: CLP1 as Green List (high evidence)
Hereditary ataxia v1.209 CLP1 Sarah Leigh Added comment: 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.
Hereditary ataxia v1.209 CLP1 Sarah Leigh Gene: clp1 has been classified as Green List (High Evidence).
Hereditary ataxia v1.208 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.