Possible mitochondrial disorder - nuclear genes
Gene: NUBPL

NUBPL (nucleotide binding protein like)
EnsemblGeneIds (GRCh38): ENSG00000151413
EnsemblGeneIds (GRCh37): ENSG00000151413
OMIM: 613621, Gene2Phenotype
NUBPL is in 13 panels

3 reviews

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.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 21, 618242

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:29 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

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.

Created: 1 Jul 2015, 10:35 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Mitochondrial complex I deficiency, nuclear type 21, 618242

OMIM

613621

Clinvar variants

Variants in NUBPL

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NUBPL was added gene: NUBPL was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242

Possible mitochondrial disorder - nuclear genes Gene: NUBPL