Human Gene Module / Chromosome 19 / NOVA2

NOVA2NOVA alternative splicing regulator 2

Score
S
Syndromic Syndromic
Autism Reports / Total Reports
0 / 1
Rare Variants / Common Variants
6 / 0
Aliases
NOVA2, ANOVA,  NOVA3
Associated Syndromes
-
Genetic Category
Syndromic
Chromosome Band
19q13.32
Associated Disorders
ASD
Relevance to Autism

Mattioli et al., 2020 reported six individuals with frameshift variants in the NOVA2 gene affected with a severe neurodevelopmental disorder characterized by intellectual disability, motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain MRI.

Molecular Function

May regulate RNA splicing or metabolism in a specific subset of developing neurons

Reports related to NOVA2 (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder Mattioli F et al. (2020) No ASD or autistic features, stereotypy
Rare Variants   (6)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.782del p.Val261GlyfsTer135 frameshift_variant De novo NA Simplex 32197073 Mattioli F et al. (2020)
c.709_748del p.Val237ProfsTer146 frameshift_variant De novo NA Unknown 32197073 Mattioli F et al. (2020)
c.710_711insTG p.Leu238GlyfsTer159 frameshift_variant De novo NA Simplex 32197073 Mattioli F et al. (2020)
c.781del p.Val261TrpfsTer135 frameshift_variant Unknown Not maternal Simplex 32197073 Mattioli F et al. (2020)
c.702_703insCCCGCGGATGTGCTGCCAGC p.Ala235ProfsTer168 frameshift_variant De novo NA Simplex 32197073 Mattioli F et al. (2020)
c.720_721insCCGCGGATGTGCTTCCAGCC p.Ala241ProfsTer162 frameshift_variant De novo NA Simplex 32197073 Mattioli F et al. (2020)
Common Variants  

No common variants reported.

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