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Childhood onset hereditary spastic paraplegia v3.9 | AIMP1 | Mafalda Gomes Tag Q3_21_MOI was removed from gene: AIMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v3.9 | AIMP1 | Mafalda Gomes commented on gene: AIMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v3.8 | AIMP1 | Mafalda Gomes Mode of inheritance for gene AIMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.51 | AIMP1 | Arina Puzriakova Tag Q3_21_MOI tag was added to gene: AIMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.51 | AIMP1 |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'both mono- and biallelic' to 'biallelic' only at the next GMS panel update (tagged Q3_21_MOI). Literature review showed that all affected individuals harbour biallelic variants, while heterozygous variant carriers are asymptomatic. The MOI is also biallelic in OMIM, Gen2Phen, and all other relevant panels. |
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Childhood onset hereditary spastic paraplegia v2.51 | AIMP1 | Arina Puzriakova Mode of inheritance for gene: AIMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v2.50 | AIMP1 | Arina Puzriakova Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.161 | AIMP1 | Louise Daugherty Mode of inheritance for gene: AIMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.160 | AIMP1 | Louise Daugherty Publications for gene: AIMP1 were set to 21092922 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.159 | AIMP1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.75 | AIMP1 | Louise Daugherty Source Yorkshire and North East GLH was added to AIMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | AIMP1 | Louise Daugherty commented on gene: AIMP1: 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 v1.73 | AIMP1 | Nick Beauchamp reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.48 | AIMP1 | Louise Daugherty reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | AIMP1 | James Polke reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.5 | AIMP1 | Louise Daugherty Source NHS GMS was added to AIMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.4 | AIMP1 | Louise Daugherty Source London North GLH was added to AIMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | AIMP1 | Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 3, 260600 for gene: AIMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.64 | AIMP1 | Louise Daugherty Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 3, 260600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.62 | AIMP1 | Arianna Tucci commented on gene: AIMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.6 | AIMP1 |
Sarah Leigh gene: AIMP1 was added gene: AIMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP1 were set to 21092922 Phenotypes for gene: AIMP1 were set to 260600 |