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Regression

Gene: NDUFB3

Red List (low evidence)

NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3)
EnsemblGeneIds (GRCh38): ENSG00000119013
EnsemblGeneIds (GRCh37): ENSG00000119013
OMIM: 603839, Gene2Phenotype
NDUFB3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Ten families and functional data. In particular, the 8 families of shared Irish ancestry only had short stature and dysmorphic features, without marked metabolic disturbance. One of the other reported individuals died in infancy but apart from this neurodevelopmental regression does not appear to be a prominent part of the phenotype.
Created: 10 May 2021, 8:07 a.m. | Last Modified: 10 May 2021, 8:07 a.m.
Panel Version: 0.326

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; MONDO:0032629

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 25, MIM#618246
  • MONDO:0032629
OMIM
603839
Clinvar variants
Variants in NDUFB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufb3 has been classified as Red List (Low Evidence).

10 May 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; MONDO:0032629

10 May 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFB3 were set to

10 May 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 May 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufb3 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDUFB3 was added gene: NDUFB3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFB3 was set to Unknown