Adult onset hereditary spastic paraplegia
Gene: AIMP1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Comment on list classification: Review of literature did not reveal any adult onset cases - infantile and childhood onset only.
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 16 Aug 2021, 10:50 a.m. | Last Modified: 16 Aug 2021, 10:50 a.m.
Panel Version: 1.31
Childhood onset.Created: 20 Sep 2020, 7:49 a.m. | Last Modified: 20 Sep 2020, 7:49 a.m.
Panel Version: 1.7
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.Created: 21 May 2019, 4:14 p.m.
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.Created: 9 May 2019, 4:50 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: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600
Tag Q3_21_phenotype was removed from gene: AIMP1.
Source Expert Review Amber was added to AIMP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_phenotype tag was added to gene: AIMP1.
Gene: aimp1 has been classified as Green List (High Evidence).
Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, OMIM:260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
Publications for gene: AIMP1 were set to
Source Yorkshire and North East GLH was added to AIMP1.
Source Expert Review Green was added to AIMP1. Mode of inheritance for gene AIMP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 for gene: AIMP1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to AIMP1.
gene: AIMP1 was added gene: AIMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AIMP1 was set to