Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Mitochondrial disease
Gene: NDUFA8

NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8)
EnsemblGeneIds (GRCh38): ENSG00000119421
EnsemblGeneIds (GRCh37): ENSG00000119421
OMIM: 603359, Gene2Phenotype
NDUFA8 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family reported with pair of affected siblings and homozygous missense variant, some functional data.
Created: 18 Apr 2021, 7:06 a.m. | Last Modified: 18 Apr 2021, 7:06 a.m.

Panel Version: 0.596

Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.
Sources: Literature
Created: 3 Aug 2020, 10:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures; lactic acidosis

Publications

Created: 3 Aug 2020, 10:52 p.m.

Panel version: 0.596

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272
Developmental delay
microcehaly
seizures

OMIM

Clinvar variants

Variants in NDUFA8

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures

18 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA8 were set to 32385911

18 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa8 has been classified as Amber List (Moderate Evidence).

3 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa8 has been classified as Red List (Low Evidence).

3 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFA8 was added gene: NDUFA8 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA8 were set to 32385911 Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures Review for gene: NDUFA8 was set to RED