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Adult onset hereditary spastic paraplegia v1.95 | HACE1 | Ivone Leong Tag Q3_21_phenotype was removed from gene: HACE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.95 | HACE1 | Sarah Leigh commented on gene: HACE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.94 | HACE1 |
Ivone Leong Source Expert Review Amber was added to HACE1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Adult onset hereditary spastic paraplegia v1.39 | HACE1 | Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: HACE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.39 | HACE1 | Arina Puzriakova Publications for gene: HACE1 were set to 26424145; 26437029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.38 | HACE1 | Arina Puzriakova reviewed gene: HACE1: Rating: ; Mode of pathogenicity: None; Publications: 26424145, 26437029, 29423242, 31321300, 33813722; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, OMIM:616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v1.7 | HACE1 | Zornitza Stark reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.148 | HACE1 | Louise Daugherty commented on gene: HACE1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.146 | HACE1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.95 | HACE1 | Louise Daugherty Publications for gene: HACE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.54 | HACE1 | Louise Daugherty Source Yorkshire and North East GLH was added to HACE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | HACE1 | Nick Beauchamp reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26424145, 26437029; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.53 | HACE1 | Louise Daugherty commented on gene: HACE1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.6 | HACE1 | Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.5 | HACE1 | James Polke reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.4 | HACE1 |
Louise Daugherty Source Expert Review Green was added to HACE1. Mode of inheritance for gene HACE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia for gene: HACE1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset hereditary spastic paraplegia v0.3 | HACE1 | Louise Daugherty Source NHS GMS was added to HACE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset hereditary spastic paraplegia v0.2 | HACE1 |
Louise Daugherty gene: HACE1 was added gene: HACE1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: HACE1 was set to |