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Possible mitochondrial disorder - nuclear genes

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

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 'unrelated' cases but only one mutation reported, and functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 2, 610498

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 2, 610498

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 1:48 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
  • 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

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: MRPS16 was added gene: MRPS16 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to 28749478; 15505824 Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498