1. Panels
  2. Leukodystrophy - paediatric
  3. LYRM7
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - paediatric

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • 615838
  • Mitochondrial complex III deficiency, nuclear type 8
  • 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
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LYRM7 was added gene: LYRM7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYRM7 were set to 615838; Mitochondrial complex III deficiency, nuclear type 8; leukoencephalopathy and complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle