Early onset or syndromic epilepsy
Gene: AIMP1
AR hypermyelinating leukodystrophy 3 - severe neurologic disorder charecterised by early infantile onset of global developemental delay, lack of development, lack of speech acquisition and peripheral spasticity. Feinstein et al, 2010 - 7 individuals from an extended consang Israeli Bedouin family - 2/7 had seizures - hom variant detected. Armstrong et al 2014 - Filipino girl - developed intractable seizures at 3 weeks - hom truncating mutation detected. Iqbal et al, 2016 - 2 consang families from Pakistan and Iran - mod to severe ID global dev delay and speech impairment without neurodegen - no seizures reported. Gonzaga-Jauregui et al, 2015Patient BAB3664 - CMT2 with additional pyramidal signs - hom nonsense variant - no mention of his clinical features in supplementary date.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 260600
Publications
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on mode of inheritance: Updated MOI from monoallelic to biallelic to match OMIM, Gene2Phenotype, and other relevant panels.Created: 6 Dec 2018, 2:21 p.m.
Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)Created: 16 Jul 2018, 3:42 p.m.
Gene already green on the Inherited white matter disorders panel, i.e. enough evidence to mark as green,. epilepsy is part of the phenotypeCreated: 4 Jul 2018, 9:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating 3, 260600
Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating 3 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
Source Wessex and West Midlands GLH was added to AIMP1.
Source NHS GMS was added to AIMP1.
Arianna Tucci: Gene already green on the Inhe
Mode of inheritance for gene: AIMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: aimp1 has been classified as Green List (High Evidence).
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating 3 260600
Mode of inheritance for gene: AIMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: aimp1 has been classified as Green List (High Evidence).
Expert Review Amber was added to AIMP1. Panel: Genetic Epilepsy Syndromes
AIMP1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
AIMP1 was created by Sarah Leigh