Childhood onset hereditary spastic paraplegia
Gene: AIMP1The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 3.9
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.Created: 16 Aug 2021, 11:01 a.m. | Last Modified: 16 Aug 2021, 11:01 a.m.
Panel Version: 2.51
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.Created: 9 May 2019, 4:54 p.m.
Victoria: infantile and childhood onset. infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. 2 publications, affected members in large consanguineous Israeli Bedouin kinderd & in Filipino girlCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600
Onset in first months of life for Leukodystrophy, hypomyelinating, 3Created: 14 Jan 2019, 4:01 p.m.
Tag Q3_21_MOI was removed from gene: AIMP1.
Mode of inheritance for gene AIMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag Q3_21_MOI tag was added to gene: AIMP1.
Mode of inheritance for gene: AIMP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
Mode of inheritance for gene: AIMP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 21092922
Source Yorkshire and North East GLH was added to AIMP1.
Source NHS GMS was added to AIMP1.
Source London North GLH was added to AIMP1.
Added phenotypes Leukodystrophy, hypomyelinating, 3, 260600 for gene: AIMP1
Arianna Tucci: Onset in first months of life
Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 3, 260600
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