Cytopenias and congenital anaemias
Gene: YARS2EnsemblGeneIds (GRCh38): ENSG00000139131
EnsemblGeneIds (GRCh37): ENSG00000139131
OMIM: 610957, Gene2Phenotype
YARS2 is in 10 panels
1 review
Helen Brittain (Genomics England Curator)
Comment when marking as ready: >4 families. Presentation with anaemia in association with other features.Created: 28 Feb 2017, 2:16 p.m.
In excess of 4 families with biallelic mutations and presentation with lactic acidosis / sideroblastic anaemia. Myopathic presentation more variable. Considered appropriate for inclusion.Created: 28 Feb 2017, 11:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 2 613561
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy, lactic acidosis, and sideroblastic anemia 2 613561
- OMIM
- 610957
- Clinvar variants
- Variants in YARS2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2 613561
Set publications
Helen Brittain (Genomics England Curator)Publications for YARS2 were set to 24344687; 20598274; 24430573
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)YARS2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Created
Louise Daugherty (Genomics England Curator)YARS2 was created by LouiseD