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  3. NOTCH2NL
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Regression

Gene: NOTCH2NL

No list
NOTCH2NL (notch 2 N-terminal like)
EnsemblGeneIds (GRCh38): ENSG00000264343
EnsemblGeneIds (GRCh37): ENSG00000213240
NOTCH2NL is in 8 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: STR is the only reported cause of disease in this gene. It has been added as an STR under NIID.
Created: 14 Jun 2021, 11:28 p.m. | Last Modified: 14 Jun 2021, 11:28 p.m.
Panel Version: 0.339
Created: 14 Jun 2021, 11:28 p.m.
Last Modified: 14 Jun 2021, 11:28 p.m.
Panel version: 0.339

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL
Sources: Literature
Created: 10 Jan 2020, 4:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID

Publications

Mode of pathogenicity
Other

Created: 10 Jan 2020, 4:50 a.m.

Panel version: 0.58

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE
  • NIID
Clinvar variants
Variants in NOTCH2NL
Penetrance
Incomplete
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

14 Jun 2021, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: notch2nl has been removed from the panel.

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: notch2nl has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Sue White (Victorian Clinical Genetics Services)

Gene: notch2nl has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Sue White (Victorian Clinical Genetics Services)

gene: NOTCH2NL was added gene: NOTCH2NL was added to Regression_VCGS. Sources: Literature Mode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2NL were set to 31332381 Phenotypes for gene: NOTCH2NL were set to OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID Penetrance for gene: NOTCH2NL were set to Incomplete Mode of pathogenicity for gene: NOTCH2NL was set to Other Review for gene: NOTCH2NL was set to GREEN