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Severe microcephaly

Gene: AARS

No list

AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 16 panels

1 review

Zornitza Stark (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.
Sources: Expert list
Created: 4 Sep 2020, 10:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

History Filter Activity

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: AARS was added gene: AARS was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS were set to 28493438; 25817015 Phenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29, MIM# 616339 Review for gene: AARS was set to GREEN gene: AARS was marked as current diagnostic