Gene Symbol:
NBEA
HGNC:7648
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
13q13.3
Filters:

ClinGen classifications

complex neurodevelopmental disorder
AD
12/02/2020
Evaluated
04/21/2024
Submitted

Illumina classifications

syndromic intellectual disability
AD
01/18/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The NBEA gene is located on chromosome 13 at 13q13.3 and encodes the neurobeachin protein. Neurobeac... Read more

Invitae classifications

neurodevelopmental disorder with or without early-onset generalized epilepsy
Submitted as: OMIM:619157
AD
08/31/2021
Evaluated
11/30/2023
Submitted

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