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Mendeliome

Gene: NDUFAF7

Red List (low evidence)

NDUFAF7 (NADH:ubiquinone oxidoreductase complex assembly factor 7)
EnsemblGeneIds (GRCh38): ENSG00000003509
EnsemblGeneIds (GRCh37): ENSG00000003509
OMIM: 615898, Gene2Phenotype
NDUFAF7 is in 2 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Single family with heterozygous variant. In vitro functional assays conducted are not compelling evidence.
Created: 18 Mar 2022, 6:16 a.m. | Last Modified: 18 Mar 2022, 6:16 a.m.
Panel Version: 0.11541

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pathologic myopia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pathologic myopia
OMIM
615898
Clinvar variants
Variants in NDUFAF7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf7 has been classified as Red List (Low Evidence).

19 Mar 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFAF7 were changed from to Pathologic myopia

19 Mar 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFAF7 were set to

19 Mar 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf7 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: NDUFAF7 was added gene: NDUFAF7 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFAF7 was set to Unknown