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Inborn errors of metabolism

Gene: MRPS16

Amber List (moderate evidence)

MRPS16 (mitochondrial ribosomal protein S16)
EnsemblGeneIds (GRCh38): ENSG00000182180
EnsemblGeneIds (GRCh37): ENSG00000182180
OMIM: 609204, Gene2Phenotype
MRPS16 is in 6 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: single homozygous terminating variant in two 'unrelated' cases, together with functional studies.
Created: 27 Sep 2019, 1:39 p.m. | Last Modified: 27 Sep 2019, 3:23 p.m.
Panel Version: 1.311
Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS
Created: 27 Sep 2019, 1:34 p.m. | Last Modified: 27 Sep 2019, 1:34 p.m.
Panel Version: 1.303

Zornitza Stark (Australian Genomics)

I don't know

Please note this additional perinatal lethal case reported in the literature as part of a big series. May be merits Amber.
Created: 30 Aug 2018, 8:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 2, MIM#610498

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

Red List (low evidence)

relevant phenotype since the disorder Combined oxidative phosphorylation deficiency 2 includes the clinical synopsis of Lactic acidosis (metabolic disorder). This gene is part of diagnostic labs in the USA/Germany. However, there is only one case reported PMID:15505824 (2004) c.331C>T (p.Arg111Ter) in the literature listed by OMIM. Also In PMID: 21169334 (2011) a large collective of patients with combined respiratory chain deficiency was accessed but they could not identify disease-causing variants in MRPS16, highlighting the difficulty of genetic diagnosis in these patients when using a candidate gene approach. GTR has this gene clinical testing https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=51021[geneid] also https://www.ncbi.nlm.nih.gov/clinvar/variation/214677/ GeneDx do regard it as pathogenic. On Radboud MITOCHONDRIAL DISORDERS panel
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 2, 610498; CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Additional case reported - promoted from Red to Amber.
Created: 29 Mar 2019, 1:46 p.m.
One case report in OMIM.
Created: 16 Aug 2016, 11:46 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 2 610498
OMIM
609204
Clinvar variants
Variants in MRPS16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mrps16 has been classified as Amber List (Moderate Evidence).

27 Sep 2019, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MRPS16 were changed from Combined oxidative phosphorylation deficiency 2, 610498; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS to Combined oxidative phosphorylation deficiency 2 610498

27 Sep 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MRPS16 were set to 27604308

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MRPS16. Source London North GLH was added to MRPS16.

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

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Combined oxidative phosphorylation deficiency 2, 610498; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS for gene: MRPS16 Publications for gene MRPS16 were changed from to 27604308

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MRPS16 was added gene: MRPS16 was added to Inborn errors of metabolism. Sources: Expert Review Red 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; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)