Adult onset neurodegenerative disorder
Gene: AIMP1
autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly. Early onset and non-progressive so redCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 3, 260600
Onset in first months of lifeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 3, 260600
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Comment on phenotypes: amended phenotype name from OMIMCreated: 10 Jan 2019, 3:22 p.m.
Source Expert Review Red was added to AIMP1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to AIMP1.
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.
Louise Daugherty: Comment on phenotypes: amended
Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 260600 to Leukodystrophy, hypomyelinating, 3, 260600
Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 260600
gene: AIMP1 was added gene: AIMP1 was added to Neurodegenerative disorders - adult onset. Sources: 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