Congenital muscular dystrophy and congenital myopathy
Gene: YARS2EnsemblGeneIds (GRCh38): ENSG00000139131
EnsemblGeneIds (GRCh37): ENSG00000139131
OMIM: 610957, Gene2Phenotype
YARS2 is in 10 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
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)
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
- PMID 24344687
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561
- OMIM
- 610957
- Clinvar variants
- Variants in YARS2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: YARS2 was added gene: YARS2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS2 were set to 24344687 Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561 Penetrance for gene: YARS2 were set to Complete