Congenital myopathy

Gene: YARS2

Red List (low evidence)

YARS2 (tyrosyl-tRNA synthetase 2)
EnsemblGeneIds (GRCh38): ENSG00000139131
EnsemblGeneIds (GRCh37): ENSG00000139131
OMIM: 610957, Gene2Phenotype
YARS2 is in 11 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561

Publications

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: Borderline. If further evidence emerges of early onset primarily muscle phenotype then could be green.
Created: 3 Feb 2017, 11:37 a.m.
Comment on list classification: There are greater than 4 families in total with features from the full phenotype (inc lactic acidosis / anaemia) but insufficient evidence in my view for inclusion on a congenital myopathy panel. Of the six cases (5 families) described in PMID above, only 3 families had evidence of skeletal muscle involvement and only one of those had delayed motor milestones (other patients presenting in later childhood / early adulthood).
Created: 3 Feb 2017, 11:35 a.m.
There are greater than 4 families in total with features from the full phenotype (inc lactic acidosis / anaemia) but insufficient evidence in my view for inclusion on a congenital myopathy panel. Of the six cases (5 families) described in PMID above, only 3 families had evidence of skeletal muscle involvement and only one of those had delayed motor milestones (other patients presenting in later childhood / early adulthood).
Created: 30 Jan 2017, 12:25 p.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 Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis
  • 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

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for YARS2 were set to 24344687

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

YARS2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

YARS2 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services