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Cardiomyopathy_Paediatric
Gene: NDUFA4

NDUFA4 (NDUFA4, mitochondrial complex associated)
EnsemblGeneIds (GRCh38): ENSG00000189043
EnsemblGeneIds (GRCh37): ENSG00000189043
OMIM: 603833, Gene2Phenotype
NDUFA4 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported, insufficient evidence to include in this specific panel.
Created: 25 Oct 2020, 9:52 a.m. | Last Modified: 25 Oct 2020, 9:52 a.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065

Publications

Created: 25 Oct 2020, 9:52 a.m.
Last Modified: 25 Oct 2020, 9:52 a.m.
Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
MetBioNet
NHS GMS

Phenotypes

Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065

OMIM

Clinvar variants

Variants in NDUFA4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa4 has been classified as Red List (Low Evidence).

25 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA4 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065

25 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA4 were set to 23746447, 29636225

25 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa4 has been classified as Red List (Low Evidence).

28 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFA4 was added gene: NDUFA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA4 were set to 23746447, 29636225 Phenotypes for gene: NDUFA4 were set to No OMIM phenotype