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  2. Leukodystrophy - paediatric
  3. MRPS16
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Leukodystrophy - paediatric

Gene: MRPS16

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No clear link to leukodystrophy reported.
Sources: Expert list
Created: 18 Jan 2020, 8:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 2, 610498

Created: 18 Jan 2020, 8:41 a.m.

Panel version: 0.26

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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 panel version 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Australian Genomcis Health Alliance Leukodystrophy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 2, 610498
OMIM
609204
Clinvar variants
Variants in MRPS16
Penetrance
None
Panels with this gene

History Filter Activity

18 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MRPS16 was added gene: MRPS16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498 Review for gene: MRPS16 was set to RED