NBEA:Ensemblv90

neurobeachin
OMIM: 604889, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green NBEA in Mendeliome Version 1.3802	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 1.309 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 1.508	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 0.144 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
Green NBEA in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Paroxysmal Kinesigenic Dyskinesia DEE autism intellectual disability