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Intellectual disability syndromic and non-syndromic

Gene: NDUFV1

Green List (high evidence)

NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)
EnsemblGeneIds (GRCh38): ENSG00000167792
EnsemblGeneIds (GRCh37): ENSG00000167792
OMIM: 161015, Gene2Phenotype
NDUFV1 is in 13 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

>20 unrelated probands reported thus far and PMID:34807224 provides phenotypic and genotype summary. DD/ID can be seen in condition.
Created: 3 Oct 2024, 1:35 a.m. | Last Modified: 3 Oct 2024, 1:35 a.m.
Panel Version: 0.6304

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 4 MIM#618225

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
OMIM
161015
Clinvar variants
Variants in NDUFV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufv1 has been classified as Green List (High Evidence).

3 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225

3 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFV1 were set to

3 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFV1 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: NDUFV1 was added gene: NDUFV1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFV1 was set to Unknown