1. Genes and Genomic Entities
  2. NOVA2

NOVA2

NOVA alternative splicing regulator 2
OMIM: 601991, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green NOVA2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.158
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859
  • neurodevelopmental disorder with hypotonia, neurological features, and brain abnormalities
Green NOVA2 in DDG2P


Version 6.427
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual disability with ataxia/spasticity
    Green NOVA2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.325
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 618859