White matter disorders and cerebral calcification - narrow panel
Gene: NDUFAF3
NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I deficiency
- OMIM
- 612911
- Clinvar variants
- Variants in NDUFAF3
- Penetrance
- None
- Panels with this gene
-
- Optic neuropathy
- Mitochondrial disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorder with complex I deficiency
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NDUFAF3 was added gene: NDUFAF3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency