Genomics England
GMS Panels
Panels
Genes and Entities

NOVA2

NOVA alternative splicing regulator 2
OMIM: 601991
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual disability with ataxia/spasticity
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 618859