Inherited white matter disorders

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

4 reviews

Zornitza Stark (Australian Genomics)

I don't know

Another case in this recent publication? But perinatal lethal, somewhat limited clinical information as part of a large cohort.
Created: 24 Jul 2018, 2:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Ellen Thomas (Genomics England Curator)

Comment on list classification: Insufficient evidence but look again as likely to be able to promote soon.
Created: 6 Oct 2016, 9:49 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. However, there is only 1 case reported in OMIM and found in a literature search (PMID: 15505824), with a functional study examining the variant (PMID: 18539099). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Combined oxidative phosphorylation deficiency 2. Red gene in the Mitochondrial panel version 1.7.
Created: 16 Aug 2016, 11:58 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_673

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Combined oxidative phosphorylation deficiency 2
  • Mitochondrial Leukoencephalopathy
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
OMIM
609204
Clinvar variants
Variants in MRPS16
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

16 Aug 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MRPS16 were set to 15505824; 25655951; 18539099

16 Aug 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MRPS16 were set to Combined oxidative phosphorylation deficiency 2;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy

16 Aug 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MRPS16 were set to 15505824;25655951

16 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

MRPS16 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

MRPS16 was created by [email protected]