Mitochondrial disorders
Gene: LYRM4
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.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: 2.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 19, OMIM: 615595
Publications
Three individuals from two families reported. Amber on the other mito panel.Created: 20 Mar 2020, 7:40 a.m. | Last Modified: 20 Mar 2020, 7:41 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 19, MIM# 615595
Publications
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)
Gene: lyrm4 has been classified as Amber List (Moderate 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
Tag Q3_22_rating tag was added to gene: LYRM4.
Mode of inheritance for gene: LYRM4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to LYRM4. Panel: Mitochondrial disorders
LYRM4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
LYRM4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen