Paroxysmal Dyskinesia
Gene: NBEA
only one report and I have seen a poster from an independent group (not published yet)
Sources: LiteratureCreated: 15 Sep 2023, 4:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability
Publications
Gene: nbea has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NBEA were changed from Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability to Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157; Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability
Gene: nbea has been classified as Amber List (Moderate Evidence).
gene: NBEA was added gene: NBEA was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NBEA were set to 33692494 Phenotypes for gene: NBEA were set to Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability Penetrance for gene: NBEA were set to unknown Review for gene: NBEA was set to AMBER