1. Panels
  2. Congenital ophthalmoplegia
  3. NDUFV1
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital ophthalmoplegia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ophthalmoplegia is a reported feature.
Sources: Expert list
Created: 16 Nov 2020, 4:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 16 Nov 2020, 4:53 a.m.

Panel version: 0.50

Details

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

History Filter Activity

16 Nov 2020, 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).

16 Nov 2020, 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).

16 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFV1 was added gene: NDUFV1 was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, MIM# 618225 Review for gene: NDUFV1 was set to GREEN