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  3. MRPS16
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TEST Undiagnosed metabolic disorders

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
OMIM
609204
Clinvar variants
Variants in MRPS16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: MRPS16 was added gene: MRPS16 was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Red,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to 27604308