Mitochondrial disorder with complex III deficiency
Gene: LYRM7
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: LYRM7; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 8, 615838
Publications
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
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
gene: LYRM7 was added gene: LYRM7 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYRM7 were set to 29353736 Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838