Structural basal ganglia disorders

Gene: NDUFA10

Green List (high evidence)

NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10)
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 13 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable G2P. At least 5 variants reported in 3 cases.
Created: 6 Mar 2017, 3:32 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

only one patient reported in literature to date
Created: 3 Feb 2016, 4:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 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).

6 Mar 2017, Gel status: 0

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been removed from the panel.

6 Mar 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NDUFA10 were set to Leigh syndrome 256000

6 Mar 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NDUFA10 were set to 26741492; 21150889; 28247337

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

NDUFA10 was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

NDUFA10 was added to Structural basal ganglia disorderspanel. Sources: Literature