| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia and cerebellar anomalies - narrow panel v3.30 | CLP1 | Eleanor Williams Tag Q2_21_rating was removed from gene: CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | CLP1 | Eleanor Williams reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | CLP1 |
Eleanor Williams 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.48 | CLP1 | Sarah Leigh edited their review of gene: CLP1: Added comment: 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.; Changed rating: GREEN; Changed publications: 24766810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.48 | CLP1 | Sarah Leigh Tag Q2_21_rating tag was added to gene: CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.48 | CLP1 | Sarah Leigh Classified gene: CLP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.48 | CLP1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.48 | CLP1 | Sarah Leigh Gene: clp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.47 | CLP1 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.46 | CLP1 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.45 | CLP1 | Sarah Leigh Tag founder-effect tag was added to gene: CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.45 | CLP1 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.44 | CLP1 | Sarah Leigh Publications for gene: CLP1 were set to PMID: 24766810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.43 | CLP1 | Zornitza Stark reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia, type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | CLP1 |
Ellen McDonagh 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | CLP1 |
Ellen McDonagh 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||