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Prepair 1000+

Gene: NUP62

Red List (low evidence)

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

3 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

Red List (low evidence)

Still amber on mendeliome, could not find any new reports in pubmed.
Created: 11 Oct 2024, 5:35 a.m. | Last Modified: 11 Oct 2024, 5:35 a.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Insufficient evidence for gene-disease association to merit inclusion in a screening panel.
Created: 22 Jun 2022, 2:58 a.m. | Last Modified: 22 Jun 2022, 2:58 a.m.
Panel Version: 0.22

Crystle Lee (Victorian Clinical Genetics Services)

Red List (low evidence)

Amber in Mendeliome. Insufficient evidence for inclusion.

A single founder variant reported in 8 Israeli Bedouin families in 2009. No further reports.
Created: 8 Jun 2022, 12:41 a.m. | Last Modified: 8 Jun 2022, 12:41 a.m.
Panel Version: 0.0

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 Red
  • Mackenzie's Mission
Phenotypes
  • Striatonigral degeneration, infantile - MIM#271930
OMIM
605815
Clinvar variants
Variants in NUP62
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jun 2022, 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).

22 Jun 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NUP62 were changed from Striatonigral degeneration, infantile, 271930 (3) to Striatonigral degeneration, infantile - MIM#271930

22 Jun 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NUP62 were set to

22 Jun 2022, 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).

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NUP62 was added gene: NUP62 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, 271930 (3)