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Molecular autopsy

Gene: NDUFA13

Red List (low evidence)
NDUFA13 (NADH:ubiquinone oxidoreductase subunit A13)
EnsemblGeneIds (GRCh38): ENSG00000186010
EnsemblGeneIds (GRCh37): ENSG00000186010
OMIM: 609435, Gene2Phenotype
NDUFA13 is in 5 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial Diseases
  • {Thyroid carcinoma, Hurthle cell}, 607464
  • Isolated complex I deficiency
OMIM
609435
Clinvar variants
Variants in NDUFA13
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency for gene: NDUFA13

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency for gene: NDUFA13

20 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFA13 was added gene: NDUFA13 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA13 were set to Mitochondrial Diseases; {Thyroid carcinoma, Hurthle cell}, 607464; Isolated complex I deficiency