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Regression

Gene: NDUFAF1

Amber List (moderate evidence)

NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000137806
EnsemblGeneIds (GRCh37): ENSG00000137806
OMIM: 606934, Gene2Phenotype
NDUFAF1 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Severe HCM predominates as the presenting feature in the cases reported to date.
Created: 17 Mar 2022, 6:56 a.m. | Last Modified: 17 Mar 2022, 6:56 a.m.
Panel Version: 0.412

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234

Publications

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
OMIM
606934
Clinvar variants
Variants in NDUFAF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf1 has been classified as Amber List (Moderate Evidence).

17 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234

17 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFAF1 were set to

17 Mar 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFAF1 was added gene: NDUFAF1 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFAF1 was set to Unknown