Mitochondrial disorders
Gene: LYRM7As a result of watchlist tag audit the watchlist tag was removed from LYRM7- this is now a green gene with sufficient evidence/reviewCreated: 13 Jan 2020, 4:36 p.m. | Last Modified: 13 Jan 2020, 4:36 p.m.
Panel Version: 2.3
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
Tag watchlist was removed from gene: LYRM7.
Phenotypes for gene: LYRM7 were changed from Isolated complex III deficiency to Isolated complex III deficiency; 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 for gene: LYRM7 were set to
Gene: lyrm7 has been classified as Green List (High Evidence).
Mode of inheritance for gene: LYRM7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to LYRM7. Panel: Mitochondrial disorders
LYRM7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list
LYRM7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list