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Severe microcephaly

Gene: AARS

Amber List (moderate evidence)

AARS (alanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 17 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant disorder in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 5 May 2021, 9:51 a.m. | Last Modified: 5 May 2021, 9:51 a.m.
Panel Version: 2.119
Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Created: 5 May 2021, 9:23 a.m. | Last Modified: 5 May 2021, 9:23 a.m.
Panel Version: 2.118

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

5 May 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: AARS.

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

5 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag new-gene-name tag was added to gene: AARS.

18 Dec 2020, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339 to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593

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