MRPS16

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• combined oxidative phosphorylation defect type 2

  0.50

• neurodegenerative disease

  0.50

• glioma

  0.10

• central nervous system cancer

  0.10

• neoplasm

  0.10

• atrial fibrillation

  0.04

• congestive heart failure

  0.03

• heart failure

  0.02

• injury

  0.02

• ovarian cancer

  0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.