Possible mitochondrial disorder - nuclear genes
Gene: LYRM4
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 1:12 p.m. | Last Modified: 1 Feb 2023, 1:12 p.m.
Panel Version: 2.5
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.Created: 30 Aug 2022, 9:10 a.m. | Last Modified: 30 Aug 2022, 9:10 a.m.
Panel Version: 1.99
Three individuals from two unrelated families now reported in literature with supportive functional studies (PMID: 23814038; 31497476).Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 1.98
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 19, OMIM: 615595
Publications
Variants in this GENE are reported as part of current diagnostic practice
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (2 affected individuals) and functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 19, 615595
Publications
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. Two related patients reported in PMID 23814038. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 4:31 p.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 19, 615595
Publications
Tag Q3_22_rating was removed from gene: LYRM4. Tag Q3_22_NHS_review was removed from gene: 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. Tag Q3_22_NHS_review tag was added to gene: LYRM4.
Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
gene: LYRM4 was added gene: LYRM4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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