Severe microcephalyGene: AARS
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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
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
Epileptic encephalopathy, early infantile, 29, MIM# 616339
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: AARS.
Source Expert Review Green was added to AARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: AARS.
Gene: aars has been classified as Amber List (Moderate Evidence).
Tag new-gene-name tag was added to gene: AARS.
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
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