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Hereditary ataxia with onset in adulthood v2.144 | CLP1 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | CLP1 | Sarah Leigh commented on gene: CLP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.143 | CLP1 |
Eleanor Williams Source Expert Review Amber was added to CLP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.23 | CLP1 | Sarah Leigh changed review comment from: Zornitza Stark has reviewed this gene as red on this panel, as the phenotype associated with variants in CLP1 is evident in childhood. Furthermore, only a single Founder variant has been reported, in patients.; to: Zornitza Stark has reviewed this gene as red on this panel, as the phenotype associated with variants in CLP1 is evident in childhood. Furthermore, only a single (founder) variant has been reported, in patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.23 | CLP1 | Sarah Leigh Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia type 10, 615803 to Pontocerebellar hypoplasia type 10 OMIM:615803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.22 | CLP1 | Sarah Leigh Publications for gene: CLP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | CLP1 | Sarah Leigh Tag founder-effect tag was added to gene: CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | CLP1 | Sarah Leigh reviewed gene: CLP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | CLP1 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.21 | CLP1 | Zornitza Stark reviewed gene: CLP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.60 | CLP1 | Louise Daugherty Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia type 10, 615803; Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia type 10, 615803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.59 | CLP1 | Louise Daugherty Classified gene: CLP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.59 | CLP1 | Louise Daugherty Gene: clp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | CLP1 | Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 10, 615803 for gene: CLP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | CLP1 | Louise Daugherty reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | CLP1 | Tracy Lester reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | CLP1 | Louise Daugherty Source NHS GMS was added to CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | CLP1 | Louise Daugherty Source Wessex and West Midlands GLH was added to CLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.2 | CLP1 |
Eleanor Williams gene: CLP1 was added gene: CLP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia 10 (#615803) |