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Undiagnosed metabolic disorders

Gene: NUP62

Red List (low evidence)
NUP62 (nucleoporin 62)
EnsemblGeneIds (GRCh38): ENSG00000213024
EnsemblGeneIds (GRCh37): ENSG00000213024
OMIM: 605815, Gene2Phenotype
NUP62 is in 8 panels

1 review

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

Red List (low evidence)

DD Disease confidence probable. Large Bedouin family 12 affected (1 case) 12374138;14718703,16786527, only one variant indicated homozygous c.1172A>C, p.(Q391P) in a highly conserved region in the C-terminal domain. Haplotype analysis indicated a founder effect PMID:14718703. On Radboud INTELLECTUAL DISABILITY MENDELIOME/MCA MOVEMENT DISORDERS panel.
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Striatonigral degeneration, infantile, 271930

Publications

Created: 23 Feb 2017, 5:15 p.m.

Panel version: 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Infantile striatal necrosis (Other metabolic disorders)
  • Striatonigral degeneration, infantile, 271930
Tags
watchlist founder-effect
OMIM
605815
Clinvar variants
Variants in NUP62
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NUP62 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red NUP62 was added to Undiagnosed metabolic disorderspanel. Source: Radboud University Medical Center, Nijmegen

20 Feb 2017, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene NUP62 was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NUP62 was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

NUP62 was added to Undiagnosed metabolic disorderspanel. Sources: Literature