NSUN3

NOP2/Sun RNA methyltransferase family member 3
OMIM: 617491, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber NSUN3 in Optic neuropathy Level 2: Ophthalmology Version 6.42 Latest signed off version: v6.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Research Literature Phenotypes Combined oxidative phosphorylation deficiency 48, OMIM:619012 Tags Q2_26_promote_green Q2_26_NHS_review
Green NSUN3 in Likely inborn error of metabolism Level 2: Metabolic Version 9.7 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Combined oxidative phosphorylation deficiency 48, OMIM:619012
Green NSUN3 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 5.4 Latest signed off version: v5.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 48, OMIM:619012
Green NSUN3 in Mitochondrial disorders Level 2: Mitochondrial Version 10.4 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 48, OMIM:619012