Mitochondrial disease
Gene: YARS2
5 unrelated families reported with bi-allelic missense and truncating variants; the c.156C4G (p.Phe52Leu) variant is common in the Turkish/ Lebanese population
The phenotype of Myopathy, lactic acidosis, and sideroblastic anaemia 2 is highly variable with onset in infancy or early childhood, but most patients present with muscle atrophy, myopathy, lactic acidosis, and sideroblastic anaemia. Other features include Failure to thrive and Anaemia in infancy, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased cytochrome C oxidase activity and Exercise intolerance.Created: 7 Sep 2021, 8:14 a.m. | Last Modified: 7 Sep 2021, 8:14 a.m.
Panel Version: 0.645
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity
Publications
Gene: yars2 has been classified as Green List (High Evidence).
Phenotypes for gene: YARS2 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity
Publications for gene: YARS2 were set to
Mode of inheritance for gene: YARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: YARS2 was added gene: YARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: YARS2 was set to Unknown