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  3. LYRM7
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White matter disorders and cerebral calcification - narrow panel

Gene: LYRM7

Green List (high evidence)
LYRM7 (LYR motif containing 7)
EnsemblGeneIds (GRCh38): ENSG00000186687
EnsemblGeneIds (GRCh37): ENSG00000186687
OMIM: 615831, Gene2Phenotype
LYRM7 is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 8
  • leukoencephalopathy and complex III deficiency
  • 615838
  • severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
OMIM
615831
Clinvar variants
Variants in LYRM7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LYRM7 was added gene: LYRM7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYRM7 were set to 27151179; 27564080 Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8; leukoencephalopathy and complex III deficiency; 615838; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle