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Possible mitochondrial disorder - nuclear genes

Gene: LYRM4

Green List (high evidence)
LYRM4 (LYR motif containing 4)
EnsemblGeneIds (GRCh38): ENSG00000214113
EnsemblGeneIds (GRCh37): ENSG00000214113
OMIM: 613311, Gene2Phenotype
LYRM4 is in 4 panels

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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
Created: 1 Feb 2023, 1:12 p.m.
Last Modified: 1 Feb 2023, 1:12 p.m.
Panel version: 2.5

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Created: 30 Aug 2022, 9:08 a.m.
Last Modified: 30 Aug 2022, 9:08 a.m.
Panel version: 1.99

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

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 studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Combined oxidative phosphorylation deficiency 19, 615595

Publications

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ellen McDonagh (Genomics England Curator)

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.
Created: 29 Mar 2019, 4:31 p.m.

Panel version: 0.113

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 19, OMIM:615595
OMIM
613311
Clinvar variants
Variants in LYRM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: LYRM4. Tag Q3_22_NHS_review was removed from gene: LYRM4.

1 Feb 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to LYRM4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2022, Gel status: 2

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

30 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: LYRM4 were set to 23814038

25 Aug 2022, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: LYRM4. Tag Q3_22_NHS_review tag was added to gene: LYRM4.

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: lyrm4 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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