NSUN3

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

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
No list NSUN3 in Leber hereditary optic neuropathy Level 2: Mitochondrial Version 2.10 Latest signed off version: v2.5 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes LHON-like phenotype inherited optic neuropathy optic atrophy
No list NSUN3 in Optic neuropathy Level 2: Ophthalmology Version 5.48 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Research Literature Phenotypes optic neuropathy optic atrophy LHON LHON-like
Green NSUN3 in Likely inborn error of metabolism Level 2: Metabolic Version 8.98 Latest signed off version: v8.0 (30 Apr 2025) 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 4.23 Latest signed off version: v4.0 (30 Apr 2025)	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 9.46 Latest signed off version: v9.0 (30 Apr 2025) 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