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  3. NDUFA7
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Optic Atrophy

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)

Single individual, homozygous variant.
Created: 5 Sep 2024, 4:57 a.m. | Last Modified: 5 Sep 2024, 4:57 a.m.
Panel Version: 1.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy, MONDO:0003608, NDUFA7-related

Created: 5 Sep 2024, 4:57 a.m.
Last Modified: 5 Sep 2024, 4:57 a.m.
Panel version: 1.35

Mark Cleghorn (Royal Melbourne Hospital)

I don't know

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ESHG talk 2/6/24, unpublished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
Sources: Other
Created: 5 Sep 2024, 2:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber Hereditary Optic Neuropathy, MIM#619382

Created: 5 Sep 2024, 2:16 a.m.

Panel version: 1.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Optic atrophy, MONDO:0003608, NDUFA7-related
OMIM
602139
Clinvar variants
Variants in NDUFA7
Penetrance
unknown
Panels with this gene

History Filter Activity

5 Sep 2024, 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).

5 Sep 2024, 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).

5 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa7 has been classified as Amber List (Moderate Evidence).

5 Sep 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA7 were changed from Leber Hereditary Optic Neuropathy, MIM#619382 to Optic atrophy, MONDO:0003608, NDUFA7-related

5 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa7 has been classified as Amber List (Moderate Evidence).

5 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa7 has been classified as Amber List (Moderate Evidence).

5 Sep 2024, Gel status: 0

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

Mark Cleghorn (Royal Melbourne Hospital)

gene: NDUFA7 was added gene: NDUFA7 was added to Optic Atrophy. Sources: Other Mode of inheritance for gene: NDUFA7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA7 were set to Leber Hereditary Optic Neuropathy, MIM#619382 Penetrance for gene: NDUFA7 were set to unknown Review for gene: NDUFA7 was set to AMBER