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  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. NUP62
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

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

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Dystonia is a feature of the disease. Single variant reported in mutilpe families in 2006. No reports since.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Striatonigral degeneration, infantile 271930
OMIM
605815
Clinvar variants
Variants in NUP62
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene NUP62 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to NUP62.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NUP62 was added gene: NUP62 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: NUP62 was set to