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Hereditary ataxia with onset in adulthood v4.28 | PRICKLE1 | Arina Puzriakova Classified gene: PRICKLE1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.28 | PRICKLE1 | Arina Puzriakova Gene: prickle1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v4.27 | PRICKLE1 | Arina Puzriakova Phenotypes for gene: PRICKLE1 were changed from Progressive myoclonic epilepsy 1B OMIM:612437; epilepsy, progressive myoclonic, 1B MONDO:0012904 to Epilepsy, progressive myoclonic 1B, OMIM:612437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | PRICKLE1 | Eleanor Williams Tag Q2_21_phenotype was removed from gene: PRICKLE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.144 | PRICKLE1 | Sarah Leigh commented on gene: PRICKLE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.143 | PRICKLE1 |
Eleanor Williams Source Expert Review Amber was added to PRICKLE1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Hereditary ataxia with onset in adulthood v2.64 | PRICKLE1 | Sarah Leigh Phenotypes for gene: PRICKLE1 were changed from Progressive myoclonic epilepsy 1B, 612437; Progressive Myoclonus Epilepsy with Ataxia to Progressive myoclonic epilepsy 1B OMIM:612437; epilepsy, progressive myoclonic, 1B MONDO:0012904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.63 | PRICKLE1 | Sarah Leigh Publications for gene: PRICKLE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.62 | PRICKLE1 | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: PRICKLE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.62 | PRICKLE1 | Sarah Leigh commented on gene: PRICKLE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v2.9 | PRICKLE1 | Zornitza Stark reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: 20301774; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.118 | PRICKLE1 | Louise Daugherty Classified gene: PRICKLE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.118 | PRICKLE1 | Louise Daugherty Gene: prickle1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.9 | PRICKLE1 | Louise Daugherty Added phenotypes Progressive myoclonic epilepsy 1B, 612437 for gene: PRICKLE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.8 | PRICKLE1 | Louise Daugherty reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.7 | PRICKLE1 | Tracy Lester reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive myoclonic epilepsy 1B, 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.2 | PRICKLE1 | Louise Daugherty Source NHS GMS was added to PRICKLE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v1.1 | PRICKLE1 | Louise Daugherty Source Wessex and West Midlands GLH was added to PRICKLE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary ataxia with onset in adulthood v0.2 | PRICKLE1 |
Eleanor Williams gene: PRICKLE1 was added gene: PRICKLE1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRICKLE1 were set to Progressive Myoclonus Epilepsy with Ataxia |