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Undiagnosed metabolic disorders

Gene: LYRM4

Red List (low evidence)

LYRM4 (LYR motif containing 4)
EnsemblGeneIds (GRCh38): ENSG00000214113
EnsemblGeneIds (GRCh37): ENSG00000214113
OMIM: 613311, Gene2Phenotype
LYRM4 is in 4 panels

1 review

Catherine Snow (Genomics England)

I don't know

LYRM4 is in OMIM but not in Gene2Phenotype. Two related patients in PMID 23814038 and some functional work. As <3 unrelated patients, classifying LYRM4 as Amber.
Sources: Expert Review
Created: 21 Oct 2019, 1:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Combined oxidative phosphorylation deficiency 19, 615595

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 19, 615595
OMIM
613311
Clinvar variants
Variants in LYRM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Oct 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: LYRM4 was added gene: LYRM4 was added to Undiagnosed metabolic disorders. Sources: Expert Review Mode of inheritance for gene: LYRM4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYRM4 were set to 23814038 Phenotypes for gene: LYRM4 were set to ?Combined oxidative phosphorylation deficiency 19, 615595 Review for gene: LYRM4 was set to AMBER