Hereditary spastic paraplegia - adult onsetGene: AIMP1
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 girl
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 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