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  3. AARS
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Leukodystrophy - adult onset

Gene: AARS

Amber List (moderate evidence)
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)

I don't know

Limited evidence to link with leukodystrophy. Single multigenerational family segregating a heterozygous missense variant.
Sources: Expert list
Created: 21 Jun 2020, 6:07 a.m. | Last Modified: 10 Jan 2022, 2:46 a.m.
Panel Version: 0.94

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661

Publications

Created: 21 Jun 2020, 6:07 a.m.
Last Modified: 10 Jan 2022, 2:46 a.m.
Panel version: 0.96

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
OMIM
601065
Clinvar variants
Variants in AARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AARS were changed from Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 to Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661

10 Jan 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: AARS was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aars has been classified as Amber List (Moderate Evidence).

21 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aars has been classified as Amber List (Moderate Evidence).

21 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aars has been classified as Amber List (Moderate Evidence).

21 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aars has been classified as Amber List (Moderate Evidence).

21 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AARS was added gene: AARS was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS were set to 31775912 Phenotypes for gene: AARS were set to Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 Review for gene: AARS was set to AMBER