Paediatric or syndromic cardiomyopathy
Gene: NUBPL
NUBPL (nucleotide binding protein like)
EnsemblGeneIds (GRCh38): ENSG00000151413
EnsemblGeneIds (GRCh37): ENSG00000151413
OMIM: 613621, Gene2Phenotype
NUBPL is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000151413
EnsemblGeneIds (GRCh37): ENSG00000151413
OMIM: 613621, Gene2Phenotype
NUBPL is in 13 panels
3 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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: NUBPL1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 21, 618242
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
-
- Expert Review Amber
- MetBioNet
- NHS GMS
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 21, 618242
- OMIM
- 613621
- Clinvar variants
- Variants in NUBPL
- Penetrance
- None
- Panels with this gene
-
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex I deficiency
- Likely inborn error of metabolism
- DDG2P
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Intellectual disability
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
History Filter Activity
8 Mar 2022, Gel status: 2
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to NUBPL. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
9 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NUBPL was added gene: NUBPL was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet 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