Inherited white matter disorders

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

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
OMIM
615831
Clinvar variants
Variants in LYRM7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LYRM7 was added to Inherited white matter disorderspanel. Sources: Literature

6 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LYRM7 was created by ellenmcdonagh