Mitochondrial disorders
Gene: NUBPLEnsemblGeneIds (GRCh38): ENSG00000151413
EnsemblGeneIds (GRCh37): ENSG00000151413
OMIM: 613621, Gene2Phenotype
NUBPL is in 13 panels
2 reviews
Shamima Rahman (UCL Institute of Child Health)
Ellen McDonagh (Genomics England Curator)
This gene was submitted as "IND1" in the expert list, and is most likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:35 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Mitochondrial Diseases
- Mitochondrial Respiratory Chain Complex I Deficiency
- OMIM
- 613621
- Clinvar variants
- Variants in NUBPL
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- DDG2P
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorder with complex I deficiency
- Fetal anomalies
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to NUBPL. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NUBPL was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NUBPL was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NUBPL was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NUBPL was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NUBPL was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NUBPL was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NUBPL was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NUBPL was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)NUBPL was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services