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Intellectual disability syndromic and non-syndromic

Gene: NDUFAF3

Amber List (moderate evidence)

NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three unrelated families reported, severe neonatal presentation with lactic acidosis, seizures, and need for respiratory support. ID is unlikely to be the presenting or main feature.
Created: 7 Dec 2019, 8:09 a.m. | Last Modified: 5 Mar 2020, 2:38 a.m.
Panel Version: 0.2380

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 18, MIM#618240

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 18, MIM#618240
OMIM
612911
Clinvar variants
Variants in NDUFAF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).

7 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufaf3 has been classified as Green List (High Evidence).

7 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18, MIM#618240

7 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFAF3 were set to

7 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFAF3 was added gene: NDUFAF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF3 was set to Unknown