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Fetal anomalies

Gene: NUBPL

Green List (high evidence)

NUBPL (nucleotide binding protein like)
EnsemblGeneIds (GRCh38): ENSG00000151413
EnsemblGeneIds (GRCh37): ENSG00000151413
OMIM: 613621, Gene2Phenotype
NUBPL is in 12 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 families reported with biallelic NUBPL variants. Abnormalities of the cerebellar cortex, deep cerebral white matter and corpus callosum reported. Cardiomyopathy also reported feature of complex I deficiency.
Created: 19 Dec 2021, 11:05 p.m. | Last Modified: 19 Dec 2021, 11:05 p.m.
Panel Version: 0.1437

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242)
OMIM
613621
Clinvar variants
Variants in NUBPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NUBPL were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242)

20 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NUBPL were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NUBPL was added gene: NUBPL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY