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  3. NUBPL
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Ataxia - paediatric

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

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene disease association
Created: 28 Mar 2022, 1:05 a.m. | Last Modified: 28 Mar 2022, 1:05 a.m.
Panel Version: 0.12062

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 28 Mar 2022, 1:05 a.m.
Last Modified: 28 Mar 2022, 1:05 a.m.
Panel version: Imported from Mendeliome panel version 0.12062

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Many patients reported with biallelic variants in gene with mitochondrial complex I deficiency. Presents with various neurodevelopmental issues including ataxia.
Sources: Literature
Created: 26 Jan 2022, 11:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242

Publications

Created: 26 Jan 2022, 11:38 p.m.

Panel version: 0.314

Details

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

History Filter Activity

27 Jan 2022, 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).

27 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NUBPL were set to PubMed: 23553477, 32518176,

26 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

26 Jan 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: NUBPL was added gene: NUBPL was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUBPL were set to PubMed: 23553477, 32518176, Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242 Review for gene: NUBPL was set to GREEN