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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)