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  3. NDUFA2
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Leukodystrophy - paediatric

Gene: NDUFA2

Amber List (moderate evidence)
NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)
EnsemblGeneIds (GRCh38): ENSG00000131495
EnsemblGeneIds (GRCh37): ENSG00000131495
OMIM: 602137, Gene2Phenotype
NDUFA2 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Biallelic variants in 2 unrelated patients with cystic leukoencephalopathy and complex I deficiency.
Sources: Expert list
Created: 18 Jan 2020, 9:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy

Created: 18 Jan 2020, 9:18 a.m.

Panel version: 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 13 618235
  • leukoencephalopathy
OMIM
602137
Clinvar variants
Variants in NDUFA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa2 has been classified as Amber List (Moderate Evidence).

18 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA2 were set to

18 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA2 were changed from ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy to Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy

18 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ndufa2 has been classified as Amber List (Moderate Evidence).

18 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NDUFA2 was added gene: NDUFA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA2 were set to ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy Review for gene: NDUFA2 was set to AMBER