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Fetal anomalies

Gene: AIMP1

Red List (low evidence)
AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)
EnsemblGeneIds (GRCh38): ENSG00000164022
EnsemblGeneIds (GRCh37): ENSG00000164022
OMIM: 603605, Gene2Phenotype
AIMP1 is in 11 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Bibb (C&S GLH)

Red List (low evidence)

Early infantile onset reported- Nystagmus, GDD, FTT, microcephaly, seizures with LOF and ID with missense variants. Total of 8 families reported. PMID:26173967 - 5/10 offspring consanguineous Pakistani family affected with ID but not neurodegeneration, homozyous for missense variant. Also consanguineous Iranian family 2/6 offspring moderate ID homozygous missense variant. PMID:21092922 - Six individuals of three related families of consanguineous Israeli Bedouin kindred. PMID:24958424 - 1 affected female in Filipino family homozygous truncating . PMID:33402283 - Filipino male, homozygous truncating variant. PMID:32531460 - 1 affected Filipino female nonsense variant. PMID:30486714 - French-Canadian patient homozygous frameshift. PMID:30477741 - 6 affected individuals large consanguineous family. Green on R61, R59, R29, lack of evidence of prenatal presentation. Red.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 3, OMIM:260600

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.188

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for LEUKODYSTROPHY, HYPOMYELINATING, 3
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

History Filter Activity

30 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, OMIM:260600; LEUKODYSTROPHY, HYPOMYELINATING, 3 to Leukodystrophy, hypomyelinating, 3, OMIM:260600

29 Aug 2024, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to AIMP1. Source Expert Review Red was added to AIMP1. Added phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 for gene: AIMP1 Publications for gene: AIMP1 were updated from to 32531460; 33402283; 21092922; 24958424; 30477741; 30486714; 26173967 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: AIMP1 was added gene: AIMP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3