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Fetal anomalies

Gene: NOVA2

Green List (high evidence)

NOVA2 (NOVA alternative splicing regulator 2)
EnsemblGeneIds (GRCh38): ENSG00000104967
EnsemblGeneIds (GRCh37): ENSG00000104967
OMIM: 601991, Gene2Phenotype
NOVA2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism.

Structural brain abnormalities reported.


Sources: Literature
Created: 26 Mar 2020, 9:55 a.m. | Last Modified: 27 Jan 2022, 3:21 a.m.
Panel Version: 0.2825

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; autism; hypotonia; spasticity; ataxia

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859
OMIM
601991
Clinvar variants
Variants in NOVA2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

27 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nova2 has been classified as Green List (High Evidence).

27 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOVA2 were changed from Intellectual disability with ataxia/spasticity to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859

27 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOVA2 were set to

27 Jan 2022, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: NOVA2 was changed from to Other

27 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NOVA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nova2 has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NOVA2 was added gene: NOVA2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity