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  2. White matter disorders and cerebral calcification - narrow panel
  3. MRPS16
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White matter disorders and cerebral calcification - narrow panel

Gene: MRPS16

Amber List (moderate evidence)
MRPS16 (mitochondrial ribosomal protein S16)
EnsemblGeneIds (GRCh38): ENSG00000182180
EnsemblGeneIds (GRCh37): ENSG00000182180
OMIM: 609204, Gene2Phenotype
MRPS16 is in 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Combined oxidative phosphorylation deficiency 2
  • Mitochondrial Leukoencephalopathy
OMIM
609204
Clinvar variants
Variants in MRPS16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: MRPS16 was added gene: MRPS16 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to 18539099; 15505824; 25655951 Phenotypes for gene: MRPS16 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Combined oxidative phosphorylation deficiency 2; Mitochondrial Leukoencephalopathy