1. Panels
  2. Structural basal ganglia disorders
  3. NDUFV1
STRs in panel
Prev Next
Regions in panel
Prev Next

Structural basal ganglia disorders

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 16 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 4 variants reported in 2 cases, together with supporting in vitro evidence (pmid 26345448)
Created: 2 Mar 2017, 3:55 p.m.
Created: 2 Mar 2017, 3:55 p.m.

Panel version: 0.90

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Mar 2017, 5:04 p.m.

Panel version: 0.56

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:29 a.m.

Panel version: Imported from "Mitochondrial disorders" panel version 0.37

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NDUFV1 were set to 26345448; 10080174

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

NDUFV1 was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

NDUFV1 was added to Structural basal ganglia disorderspanel. Sources: Literature