Mitochondrial disorders
Gene: LYRM7EnsemblGeneIds (GRCh38): ENSG00000186687
EnsemblGeneIds (GRCh37): ENSG00000186687
OMIM: 615831, Gene2Phenotype
LYRM7 is in 8 panels
4 reviews
Louise Daugherty (Genomics England Curator)
As 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
Zornitza Stark (Australian Genomics)
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
Ellen McDonagh (Genomics England Curator)
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
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literatureCreated: 4 Feb 2016, 3:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert list
- Expert
- Phenotypes
-
- 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
- OMIM
- 615831
- Clinvar variants
- Variants in LYRM7
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Mitochondrial disorder with complex III deficiency
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Inherited white matter disorders
History Filter Activity
Removed Tag
Louise Daugherty (Genomics England Curator)Tag watchlist was removed from gene: LYRM7.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: LYRM7 were set to
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: lyrm7 has been classified as Green List (High Evidence).
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: LYRM7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to LYRM7. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)LYRM7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)LYRM7 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list