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Mendeliome

Gene: NDUFA7

Red List (low evidence)

NDUFA7 (NADH:ubiquinone oxidoreductase subunit A7)
EnsemblGeneIds (GRCh38): ENSG00000267855
EnsemblGeneIds (GRCh37): ENSG00000267855
OMIM: 602139, Gene2Phenotype
NDUFA7 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

NDUFA7
ESHG talk 2/6/24, unpublished
Christine Michaela Neuhofer, Technische Universitat Munchen

Biallelic LoF with Leber Hereditary optic neuropathy (LHON)

Only 1 case, with LHON and homozygous NDUFA7:c.51+1dup
NDUFA7 protein interacts w DNAJC30 – known nuclear LHON gene

Analysis on patient fibroblasts supports disruption to complex I activity via DNAJC30
Created: 5 Sep 2024, 4:56 a.m. | Last Modified: 5 Sep 2024, 4:56 a.m.
Panel Version: 1.1980

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy, MONDO:0003608, NDUFA7-related

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

No reported gene disease association
Created: 16 Mar 2022, 11:50 p.m. | Last Modified: 16 Mar 2022, 11:50 p.m.
Panel Version: 0.11483

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy, MONDO:0003608, NDUFA7-related
OMIM
602139
Clinvar variants
Variants in NDUFA7
Penetrance
None
Panels with this gene

History Filter Activity

5 Sep 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA7 were changed from to Optic atrophy, MONDO:0003608, NDUFA7-related

5 Sep 2024, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa7 has been classified as Red List (Low Evidence).

17 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa7 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: NDUFA7 was added gene: NDUFA7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFA7 was set to Unknown