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Mitochondrial disease
Gene: NDUFA13

NDUFA13 (NADH:ubiquinone oxidoreductase subunit A13)
EnsemblGeneIds (GRCh38): ENSG00000186010
EnsemblGeneIds (GRCh37): ENSG00000186010
OMIM: 609435, Gene2Phenotype
NDUFA13 is in 3 panels

2 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Private correspondence has revealed an unpublished cohort of another 8 affected individuals with biallelic NDUFA13 variants
Created: 18 May 2023, 12:49 a.m. | Last Modified: 18 May 2023, 12:49 a.m.

Panel Version: 0.868

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249

Created: 18 May 2023, 12:49 a.m.
Last Modified: 18 May 2023, 12:49 a.m.
Panel version: 0.868

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family reported with some supportive functional data.
Created: 28 Aug 2020, 3:06 a.m. | Last Modified: 28 Aug 2020, 3:06 a.m.

Panel Version: 0.463

Single family reported.
Created: 17 Mar 2020, 11:58 p.m. | Last Modified: 17 Mar 2020, 11:58 p.m.

Panel Version: 0.140

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249

Publications

Created: 17 Mar 2020, 11:58 p.m.
Last Modified: 17 Mar 2020, 11:58 p.m.
Panel version: 0.463

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249

OMIM

Clinvar variants

Variants in NDUFA13

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa13 has been classified as Green List (High Evidence).

28 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA13 were set to 25901006

28 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa13 has been classified as Amber List (Moderate Evidence).

18 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa13 has been classified as Red List (Low Evidence).

18 Mar 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA13 were changed from to Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249

18 Mar 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA13 were set to

17 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFA13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa13 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFA13 was added gene: NDUFA13 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFA13 was set to Unknown