Undiagnosed metabolic disordersGene: 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: 1.342
Comment on phenotypes: 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, 1:36 p.m. | Last Modified: 27 Sep 2019, 1:36 p.m.
Panel Version: 1.332
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
Combined oxidative phosphorylation deficiency 2, 610498; CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS
Publications for gene: MRPS16 were set to 27604308; 28749478; 15505824
Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MRPS16 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 2, 610498; CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS to Combined oxidative phosphorylation deficiency 2 610498
Publications for gene: MRPS16 were set to 27604308
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
MRPS16 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red MRPS16 was added to Undiagnosed metabolic disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services MRPS16 was added to Undiagnosed metabolic disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
MRPS16 was created by sleigh
MRPS16 was added to Undiagnosed metabolic disorderspanel. Sources: Literature