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Regression

Gene: NUP62

Amber List (moderate evidence)

NUP62 (nucleoporin 62)
EnsemblGeneIds (GRCh38): ENSG00000213024
EnsemblGeneIds (GRCh37): ENSG00000213024
OMIM: 605815, Gene2Phenotype
NUP62 is in 8 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

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)

Green List (high evidence)

Multiple affected individuals, variable age of onset, may be after a viral trigger.
Sources: Expert Review
Created: 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
founder
OMIM
605815
Clinvar variants
Variants in NUP62
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup62 has been classified as Amber List (Moderate Evidence).

28 Mar 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: NUP62.

8 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup62 has been classified as Green List (High Evidence).

8 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup62 has been classified as Green List (High Evidence).

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup62 has been classified as Red List (Low Evidence).

8 Dec 2019, Gel status: 1

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