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Childhood onset hereditary spastic paraplegia v2.56 | HACE1 | Arina Puzriakova Publications for gene: HACE1 were set to 26424145; 26437029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.134 | HACE1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.75 | HACE1 | Louise Daugherty Source Yorkshire and North East GLH was added to HACE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | HACE1 | Nick Beauchamp reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | HACE1 | Louise Daugherty commented on gene: HACE1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.48 | HACE1 | Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.5 | HACE1 | Louise Daugherty Source NHS GMS was added to HACE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.4 | HACE1 | Louise Daugherty Source London North GLH was added to HACE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | HACE1 |
Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; seizure; psychomotor retardation for gene: HACE1 Publications for gene HACE1 were changed from 26437029; 26424145 to 26424145; 26437029 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.0 | HACE1 | Arianna Tucci commented on gene: HACE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.143 | HACE1 | Louise Daugherty Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756 to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia; seizure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.59 | HACE1 | Rebecca Foulger Classified gene: HACE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.59 | HACE1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.59 | HACE1 | Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.46 | HACE1 | Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.46 | HACE1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.46 | HACE1 | Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.45 | HACE1 | Rebecca Foulger Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure to psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.6 | HACE1 |
Sarah Leigh gene: HACE1 was added gene: HACE1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26437029; 26424145 Phenotypes for gene: HACE1 were set to psychomotor retardation; Spastic paraplegia; seizure |