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Inborn errors of metabolism

Gene: LYRM7

Green List (high evidence)

LYRM7 (LYR motif containing 7)
EnsemblGeneIds (GRCh38): ENSG00000186687
EnsemblGeneIds (GRCh37): ENSG00000186687
OMIM: 615831, Gene2Phenotype
LYRM7 is in 7 panels

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

single mutation report in literature
Created: 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
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 8
  • Isolated complex III deficiency
  • severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
  • leukoencephalopathy and complex III deficiency
  • 615838
OMIM
615831
Clinvar variants
Variants in LYRM7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

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)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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