NBEA

neurobeachin
OMIM: 604889, ClinGen, DECIPHER

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green NBEA in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures
Green NBEA in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures
Green NBEA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures
Amber NBEA in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.141 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Paroxysmal Kinesigenic Dyskinesia DEE autism intellectual disability