Regression
Gene: NUP62EnsemblGeneIds (GRCh38): ENSG00000213024
EnsemblGeneIds (GRCh37): ENSG00000213024
OMIM: 605815, Gene2Phenotype
NUP62 is in 8 panels
2 reviews
Krithika Murali (Victorian Clinical Genetics Services)
PMID 16786527 Basel-Vannegaite et al 2009 Ann Neurol - report homozygous variant in 12 affected individuals from 8 Israeli Bedouin families (all bear same surname). Regression an associated feature.
No further studies.Created: 28 Mar 2022, 6:28 a.m. | Last Modified: 28 Mar 2022, 6:28 a.m.
Panel Version: 0.462
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Striatonigral degeneration, infantile - MIM#271930
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple affected individuals, variable age of onset, may be after a viral trigger.
Sources: Expert ReviewCreated: 8 Dec 2019, 4:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Striatonigral degeneration, infantile, MIM#271930
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Striatonigral degeneration, infantile, MIM#271930
- Tags
- OMIM
- 605815
- Clinvar variants
- Variants in NUP62
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nup62 has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: NUP62.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nup62 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nup62 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nup62 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NUP62 was added gene: NUP62 was added to Regression_VCGS. Sources: Expert Review Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 16786527 Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, MIM#271930 Review for gene: NUP62 was set to GREEN