Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: LYRM4

Amber List (moderate evidence)

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

2 reviews

Catherine Snow (Genomics England)

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

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

History Filter Activity

21 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

21 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

21 Oct 2019, Gel status: 1

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: LYRM4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

21 Oct 2019, Gel status: 1

Set publications

Catherine Snow (Genomics England)

Publications for gene: LYRM4 were set to

21 Oct 2019, Gel status: 1

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: LYRM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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