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Genetic epilepsy syndromes

Gene: AIMP1

Green List (high evidence)

AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)
EnsemblGeneIds (GRCh38): ENSG00000164022
EnsemblGeneIds (GRCh37): ENSG00000164022
OMIM: 603605, Gene2Phenotype
AIMP1 is in 12 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Rebecca Foulger (Genomics England curator)

I don't know

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.

Sarah Leigh (Genomics England Curator)

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.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Gene already green on the Inherited white matter disorders panel, i.e. enough evidence to mark as green,. epilepsy is part of the phenotype
Created: 4 Jul 2018, 9:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Leukodystrophy, hypomyelinating 3, 260600

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to AIMP1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to AIMP1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: Gene already green on the Inhe

6 Dec 2018, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: AIMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aimp1 has been classified as Green List (High Evidence).

16 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating 3 260600

16 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: AIMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: aimp1 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to AIMP1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

AIMP1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

AIMP1 was created by Sarah Leigh