Leukodystrophy - paediatric
Gene: AARS

AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants associated with a severe phenotype comprising leukodystrophy, epilepsy, microcephaly and neurodevelopmental delay reported in three families.
Created: 29 Aug 2020, 4:40 a.m. | Last Modified: 29 Aug 2020, 4:40 a.m.

Panel Version: 0.170

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 29, MIM# 616339

Publications

Created: 29 Aug 2020, 4:40 a.m.
Last Modified: 29 Aug 2020, 4:40 a.m.
Panel version: 0.170

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Epileptic encephalopathy, early infantile, 29, MIM#616339

OMIM

601065

Clinvar variants

Variants in AARS

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AARS were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AARS was added gene: AARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29, MIM#616339

Leukodystrophy - paediatric Gene: AARS