Severe microcephaly
Gene: AARSEnsemblGeneIds (GRCh38): ENSG00000090861
EnsemblGeneIds (GRCh37): ENSG00000090861
OMIM: 601065, Gene2Phenotype
AARS is in 15 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
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 AARS1Created: 5 May 2021, 9:23 a.m. | Last Modified: 5 May 2021, 9:23 a.m.
Panel Version: 2.118
Zornitza Stark (Australian Genomics)
Bi-allelic variants associated with a severe phenotype comprising leukodystrophy, epilepsy, microcephaly and neurodevelopmental delay reported in three families.
Sources: Expert listCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Developmental and epileptic encephalopathy 29, OMIM:616339
- Developmental and epileptic encephalopathy, 29, MONDO:0014593
- Tags
- OMIM
- 601065
- Clinvar variants
- Variants in AARS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Fetal anomalies
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: AARS.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to AARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: AARS.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: aars has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag new-gene-name tag was added to gene: AARS.
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
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