Likely inborn error of metabolism
Gene: NUP62

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: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Red

Phenotypes

Infantile striatal necrosis (Other metabolic disorders)
Striatonigral degeneration, infantile, 271930

OMIM

605815

Clinvar variants

Variants in NUP62

Penetrance

None

Publications

27604308

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