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Inborn errors of metabolism

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Infantile striatal necrosis (Other metabolic disorders)
  • Striatonigral degeneration, infantile, 271930
OMIM
605815
Clinvar variants
Variants in NUP62
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NUP62. Source London North GLH was added to NUP62.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NUP62 was added gene: NUP62 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 27604308 Phenotypes for gene: NUP62 were set to Infantile striatal necrosis (Other metabolic disorders); Striatonigral degeneration, infantile, 271930