Cerebellar and Pontocerebellar Hypoplasia
Gene: NOVA2EnsemblGeneIds (GRCh38): ENSG00000104967
EnsemblGeneIds (GRCh37): ENSG00000104967
OMIM: 601991, Gene2Phenotype
NOVA2 is in 6 panels
1 review
Chirag Patel (Genetic Health Queensland)
Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. Early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder. Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum.
Sources: LiteratureCreated: 26 Jan 2022, 11:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859
Publications
- PMID: 32197073
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859
- OMIM
- 601991
- Clinvar variants
- Variants in NOVA2
- Penetrance
- None
- Publications
-
- PMID: 32197073
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nova2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: nova2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: nova2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: NOVA2 was added gene: NOVA2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOVA2 were set to PMID: 32197073 Phenotypes for gene: NOVA2 were set to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859 Review for gene: NOVA2 was set to GREEN