NBEA
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NBEA (HGNC:7648) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
neurobeachin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA1544, BCL8B, FLJ10197, LYST2
%HI
6.83(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.14(Read more about gnomAD LOEUF score)
Cytoband
13q13.3
Genomic Coordinates
GRCh37/hg19: chr13:35516407-36246873 NCBI Ensembl UCSC
GRCh38/hg38: chr13:34942270-35672736 NCBI Ensembl UCSC
MANE Select Transcript
NM_001385012.1 ENST00000379939.7 (Read more about MANE Select)
Function
Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11840
ClinGen Curation ID:
CCID:007519
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
06/26/2019

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Complex Neurodevelopmental Disorder Monarch
HI Evidence:
  • PUBMED: 30269351
    Mulhern et al. describe 24 cases with variants of the NBEA gene . Variants include 8 nonsense, 5 frameshift, 4 missense, 5 intragenic deletions , 1 splice site and 1 multigene. Al variants were absent from gnomad and 12,325 controls. Twenty three of the 24 cases had parental follow-up and were de novo. Twenty of 24 of the variants are predicted to result in Loss of function. All patients had neurodevelopmental disease that included developmental delay and or intellectual disability. Half the patients had autism or autistic features and about half the patients had epilepsy. Drosophila and mouse models demonstrate abnormal synaptic growth and impaired physical and social behavior (PMID 26100104, 23153818).
  • PUBMED: 12746398
    This paper describes a de novo translocation t(5;13)(q12.1;q13.2) disrupting NBEA in a male with isolated autism. The breakpoint on 13q falls within the second intron of the NBEA gene. No alternative transcripts lacking the first two exons were identified. The authors predicted that the translocation leads to a lack of NBEA expression
HI Evidence Comments:
Only one paper so far describes a cohort with multiple unrelated individuals with sequence and copy number variants in NBEA, implicating this gene in a neurodevelopment disorder featuring autism, epilepsy, and other related features. Additional articles : Allen et al. (PMID 23934111) describes a de novo mutation in Patient IN with epileptic encephalopathy and a variant that results in a stop-gain (Cohort included 264 patients with infantile spasm and Lennox-Gastaut syndrome). Iossifov et al. (PMID 25363768) reported a de novo nonsense variant in a patient with autism spectrum disorder (Patient 13761).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)