Likely inborn error of metabolism - targeted testing not possible
Gene: LYRM7
Agree with previous reviews this should be Green, based on the large number of individuals from unrelated families reported.Created: 30 Aug 2018, 6:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, MIM#615838
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted to Green due to new evidence.Created: 25 Feb 2019, 11:27 a.m.
There is now additional cases to provide evidence that this should be a green gene - see added publications.Created: 6 Oct 2016, 12:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8; 615838; leukoencephalopathy and complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
Publications
single mutation report in literatureCreated: 4 Feb 2016, 3:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to LYRM7. Mode of inheritance for gene LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isolated complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle; leukoencephalopathy and complex III deficiency; 615838; Mitochondrial complex III deficiency, nuclear type 8 for gene: LYRM7 Publications for gene LYRM7 were changed from to 27564080; 24014394; 28694194; 27151179; 26912632 Rating Changed from Red List (low evidence) to Green List (high evidence)
Sarah Leigh: Associated with phenotype in O
gene: LYRM7 was added gene: LYRM7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LYRM7 was set to Unknown Phenotypes for gene: LYRM7 were set to Isolated complex III deficiency