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Intellectual disability

Gene: NOVA2

Amber List (moderate evidence)

NOVA2 (NOVA alternative splicing regulator 2)
EnsemblGeneIds (GRCh38): ENSG00000104967
EnsemblGeneIds (GRCh37): ENSG00000104967
OMIM: 601991, Gene2Phenotype
NOVA2 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 7 Jul 2020, 5:14 p.m. | Last Modified: 7 Jul 2020, 5:14 p.m.
Panel Version: 3.153
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 terminating variants reported in unrelated cases, together supportive functional studies in a zebrafish knockdown of the NOVA2 ortholog (nova1a) (PMID 32197073).
Created: 7 Jul 2020, 5:07 p.m. | Last Modified: 7 Jul 2020, 5:07 p.m.
Panel Version: 3.152

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism.
Sources: Literature
Created: 20 Apr 2020, 2:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; autism; hypotonia; spasticity; ataxia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 618859
Tags
for-review
OMIM
601991
Clinvar variants
Variants in NOVA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: NOVA2.

7 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nova2 has been classified as Amber List (Moderate Evidence).

7 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nova2 has been classified as Amber List (Moderate Evidence).

7 Jul 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

20 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NOVA2 was added gene: NOVA2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOVA2 were set to 32197073 Phenotypes for gene: NOVA2 were set to Intellectual disability; autism; hypotonia; spasticity; ataxia Review for gene: NOVA2 was set to GREEN gene: NOVA2 was marked as current diagnostic