Likely inborn error of metabolism

Gene: MRPS16

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

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

• 28749478
• 15505824

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

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

• 15505824
• 21169334

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.

Green List (high evidence)