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  3. NDUFAF2
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Cerebral Palsy

Gene: NDUFAF2

Green List (high evidence)
NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 12 panels

1 review

Clare van Eyk (University of Adelaide)

Green List (high evidence)

Two homozygous pathogenic deletions reported in cerebral palsy cohorts. Biallelic loss of function variants have been described in a number of cases with mitochondrial complex I deficiency nuclear type 10 (OMIM 618233). Overlapping clinical phenotype.
Created: 20 Sep 2021, 12:59 p.m. | Last Modified: 20 Sep 2021, 12:59 p.m.
Panel Version: 0.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
mitochondrial complex I deficiency nuclear type 10 (OMIM 618233)

Publications

Created: 20 Sep 2021, 12:59 p.m.
Last Modified: 20 Sep 2021, 12:59 p.m.
Panel version: 0.99

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebral palsy
  • Mitochondrial complex I deficiency nuclear type 10 (OMIM 618233)
OMIM
609653
Clinvar variants
Variants in NDUFAF2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf2 has been classified as Green List (High Evidence).

20 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFAF2 were changed from Cerebral palsy to Cerebral palsy; Mitochondrial complex I deficiency nuclear type 10 (OMIM 618233)

20 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf2 has been classified as Green List (High Evidence).

20 Sep 2021, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: NDUFAF2 was added gene: NDUFAF2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF2 were set to PMID:33528536; PMID:34364746 Phenotypes for gene: NDUFAF2 were set to Cerebral palsy Review for gene: NDUFAF2 was set to GREEN