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Inborn errors of metabolism

Gene: NSUN3

Amber List (moderate evidence)

NSUN3 (NOP2/Sun RNA methyltransferase family member 3)
EnsemblGeneIds (GRCh38): ENSG00000178694
EnsemblGeneIds (GRCh37): ENSG00000178694
OMIM: 617491, Gene2Phenotype
NSUN3 is in 3 panels

1 review

Catherine Snow (Genomics England)

PMID: 27356879 - reports on a compound heterozygous variant resulting in a loss-of-function mutation in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency.
Created: 18 Nov 2019, 3:54 p.m. | Last Modified: 18 Nov 2019, 3:56 p.m.
Panel Version: 1.406

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Combined mitochondrial respiratory chain complex deficiency
OMIM
617491
Clinvar variants
Variants in NSUN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: NSUN3 was added gene: NSUN3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN3 were set to 27356879 Phenotypes for gene: NSUN3 were set to Combined mitochondrial respiratory chain complex deficiency