Mitochondrial disorders
Gene: LYRM4EnsemblGeneIds (GRCh38): ENSG00000214113
EnsemblGeneIds (GRCh37): ENSG00000214113
OMIM: 613311, Gene2Phenotype
LYRM4 is in 4 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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
Arina Puzriakova (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 19, OMIM:615595
- OMIM
- 613311
- Clinvar variants
- Variants in LYRM4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_22_rating was removed from gene: LYRM4.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)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)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LYRM4 were changed from ?Combined oxidative phosphorylation deficiency 19, 615595 to Combined oxidative phosphorylation deficiency 19, OMIM:615595
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: LYRM4 were set to
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating tag was added to gene: LYRM4.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: LYRM4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to LYRM4. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)LYRM4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)LYRM4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen