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  3. LYRM4
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Mitochondrial disease

Gene: LYRM4

Amber List (moderate evidence)
LYRM4 (LYR motif containing 4)
EnsemblGeneIds (GRCh38): ENSG00000214113
EnsemblGeneIds (GRCh37): ENSG00000214113
OMIM: 613311, Gene2Phenotype
LYRM4 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from two families reported.
Created: 3 Feb 2020, 8:09 a.m. | Last Modified: 3 Feb 2020, 8:09 a.m.
Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 19, MIM# 615595

Publications

Created: 3 Feb 2020, 8:09 a.m.
Last Modified: 3 Feb 2020, 8:09 a.m.
Panel version: 0.57

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Combined oxidative phosphorylation deficiency 19, MIM# 615595
OMIM
613311
Clinvar variants
Variants in LYRM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Feb 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LYRM4 were changed from to Combined oxidative phosphorylation deficiency 19, MIM# 615595

3 Feb 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LYRM4 were set to

3 Feb 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LYRM4 was added gene: LYRM4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: LYRM4 was set to Unknown