Undiagnosed metabolic disorders
Gene: LYRM4
This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on a Mitochondrial panel (R63) - based on three individuals from two unrelated families now reported in literature with supportive functional studies (PMID: 23814038; 31497476). As there is sufficient supporting evidence, the rating has also been updated to Green on this panel.Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 1.552
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 19, OMIM: 615595
Publications
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 ReviewCreated: 21 Oct 2019, 1:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 19, 615595
Publications
Publications for gene: LYRM4 were set to 23814038
Phenotypes for gene: LYRM4 were changed from ?Combined oxidative phosphorylation deficiency 19, 615595 to Combined oxidative phosphorylation deficiency 19, OMIM:615595
Gene: lyrm4 has been classified as Green List (High Evidence).
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