Structural basal ganglia disorders
Gene: NUP62
NUP62 (nucleoporin 62)
EnsemblGeneIds (GRCh38): ENSG00000213024
EnsemblGeneIds (GRCh37): ENSG00000213024
OMIM: 605815, Gene2Phenotype
NUP62 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000213024
EnsemblGeneIds (GRCh37): ENSG00000213024
OMIM: 605815, Gene2Phenotype
NUP62 is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a probable G2P. One variant reported in large Bedouin family. Haplotype analysis indicated a founder effect PMID:14718703.Created: 6 Mar 2017, 4:05 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Striatonigral degeneration, infantile 271930
- Tags
- OMIM
- 605815
- Clinvar variants
- Variants in NUP62
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
16 Mar 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Mar 2017, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NUP62 were set to Striatonigral degeneration, infantile 271930
6 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Mar 2017, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for NUP62 were set to 12374138;14718703;16786527
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)NUP62 was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)NUP62 was created by Manju