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Intellectual disability

Gene: NDUFA2

No list

NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)
EnsemblGeneIds (GRCh38): ENSG00000131495
EnsemblGeneIds (GRCh37): ENSG00000131495
OMIM: 602137, Gene2Phenotype
NDUFA2 is in 14 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported, DD/IDD in all.
Sources: Expert list
Created: 4 Mar 2020, 6:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 13, MIM#618235

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

4 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NDUFA2 was added gene: NDUFA2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA2 were set to 18513682; 28857146 Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, MIM#618235 Review for gene: NDUFA2 was set to GREEN gene: NDUFA2 was marked as current diagnostic