MRPS23

mitochondrial ribosomal protein S23
OMIM: 611985, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber MRPS23 in Likely inborn error of metabolism Level 2: Metabolic Version 9.33 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Combined oxidative phosphorylation deficiency 46, OMIM:618952 combined oxidative phosphorylation deficiency 46, MONDO:0033534 Tags Q2_26_promote_green
Amber MRPS23 in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.25 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 46, OMIM:618952 combined oxidative phosphorylation deficiency 46, MONDO:0033534 Tags Q2_26_promote_green
Amber MRPS23 in Mitochondrial disorders Level 2: Mitochondrial Version 10.25 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Expert list Phenotypes ?Combined oxidative phosphorylation deficiency 46, OMIM:618952 combined oxidative phosphorylation deficiency 46, MONDO:0033534 Tags Q2_26_promote_green
No list MRPS23 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.35 Latest signed off version: v8.30 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Cerebellar ataxia, distal motor neuropathy pyramidal syndrome leukoencephalopathy on brain MRI Treatment with oral folinic acid