Congenital myopathy
Gene: YARS2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Publications
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
Phenotypes for gene: YARS2 were changed from Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 to Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561
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.
This gene has been classified as Red List (Low Evidence).
Publications for YARS2 were set to 24344687
This gene has been classified as Red List (Low Evidence).
YARS2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
YARS2 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services