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Fetal anomalies

Gene: NDUFAF8

Green List (high evidence)
NDUFAF8 (NADH:ubiquinone oxidoreductase complex assembly factor 8)
EnsemblGeneIds (GRCh38): ENSG00000224877
EnsemblGeneIds (GRCh37): ENSG00000224877
NDUFAF8 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 6 panels, inc. IEM, severe paediatric disorders. Associated with Mitochondrial complex I deficiency, nuclear type 34 (AR). Early onset only. Lethal. Alston et al., 2020 PMID 31866046: Subject 2: Prenatal: severe IUGR, prominent brain ventricles, possible left dysplastic kidney and reversed end diastolic flow. Brain MRI at birth due to severe IUGR = large areas of bilateral periventricular cystic encephalomalacia with a thin CC. Deteriorated over time, died 4y1moc.1A>G p.(?) and c.195+271C>T p.(?). Conclusion: link to prenatal phenotype (severe IUGR, ventriculomegaly, ?left dysplastic kidney and reversed end diastolic flow). Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Tags
gene-checked
Clinvar variants
Variants in NDUFAF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: NDUFAF8.

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: NDUFAF8. Tag Q2_23_NHS_review was removed from gene: NDUFAF8.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to NDUFAF8. Source NHS GMS was added to NDUFAF8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NDUFAF8 were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: NDUFAF8. Tag Q2_23_NHS_review tag was added to gene: NDUFAF8.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: NDUFAF8 was added gene: NDUFAF8 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776