Mitochondrial disease
Gene: MRPS16

MRPS16 (mitochondrial ribosomal protein S16)
EnsemblGeneIds (GRCh38): ENSG00000182180
EnsemblGeneIds (GRCh37): ENSG00000182180
OMIM: 609204, Gene2Phenotype
MRPS16 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Comment on list classification: Amber for mitochondrial.
Created: 7 Dec 2019, 6:54 a.m. | Last Modified: 7 Dec 2019, 6:54 a.m.

Panel Version: 0.23

Comment on list classification: Amber for mitochondrial.
Created: 7 Dec 2019, 6:53 a.m. | Last Modified: 7 Dec 2019, 6:53 a.m.

Panel Version: 0.22

One patient with this mitochondrial disorder who died at 3 days of age; had severe acidosis and agencies of corpus callosum. Another patient described more recently as part of a big perinatal autopsy study. Link to leukodystrophy unclear.
Created: 7 Dec 2019, 6:46 a.m. | Last Modified: 7 Dec 2019, 6:46 a.m.

Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 2; OMIM #610498

Publications

Created: 7 Dec 2019, 6:46 a.m.
Last Modified: 7 Dec 2019, 6:46 a.m.
Panel version: Imported from Leukodystrophy_AustralianGenomics_VCGS panel version 0.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship
Australian Genomcis Health Alliance Leukodystrophy Flagship
Victorian Clinical Genetics Services

Phenotypes

Combined oxidative phosphorylation deficiency 2
OMIM #610498

OMIM

609204

Clinvar variants

Variants in MRPS16

Penetrance

None

Publications

Panels with this gene