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  3. NDUFAF8
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Mitochondrial disorder with complex I deficiency

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

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Newcastle team are aware of 3 unrelated cases and functional studies
Created: 10 May 2019, 9:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

Created: 10 May 2019, 9:50 a.m.

Panel version: 0.36

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 10:11 a.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.131) and is not in OMIM associated with a disease - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 11:02 a.m.
Created: 29 Mar 2019, 11:02 a.m.

Panel version: 0.21

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFAF8; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.
Created: 1 Feb 2019, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

Created: 1 Feb 2019, 4:29 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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

7 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

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

8 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NDUFAF8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufaf8 has been classified as Green List (High Evidence).

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufaf8 has been classified as Green List (High Evidence).

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NDUFAF8 was added gene: NDUFAF8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to 27499296 Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype