Likely inborn error of metabolism - targeted testing not possible
Gene: LYRM4
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
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 should also be updated to Green on this panel at the next GMS review.Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 2.265
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.Created: 21 Oct 2019, 1:30 p.m. | Last Modified: 21 Oct 2019, 1:30 p.m.
Panel Version: 1.372
Tag Q3_22_rating was removed from gene: LYRM4.
Source NHS GMS was added to LYRM4. Source Expert Review Green was added to LYRM4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: LYRM4 were changed from ?Combined oxidative phosphorylation deficiency 19, 615595 to Combined oxidative phosphorylation deficiency 19, OMIM:615595
Publications for gene: LYRM4 were set to 23814038
Tag Q3_22_rating tag was added to gene: LYRM4.
Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: LYRM4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM4 were set to
Mode of inheritance for gene: LYRM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh: Associated with phenotype in O
gene: LYRM4 was added gene: LYRM4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LYRM4 was set to Unknown Phenotypes for gene: LYRM4 were set to ?Combined oxidative phosphorylation deficiency 19, 615595