NRG3 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NRG3 (HGNC:7999) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- neuregulin 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 10.48(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.11(Read more about gnomAD pLI score)
- LOEUF
- 0.46(Read more about gnomAD LOEUF score)
- Cytoband
- 10q23.1
- Genomic Coordinates
-
GRCh37/hg19: chr10:83634950-84746935 NCBI Ensembl UCSC GRCh38/hg38: chr10:81875194-82987179 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001010848.4 ENST00000372141.7 (Read more about MANE Select)
- Function
- Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors. May be a survival factor for oligodendrocytes. {ECO:0000269|PubMed:16478787, ECO:0000269|PubMed:9275162}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-18611
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
12/21/2011
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
PMID: 21248748 van Bon (2011): Multiple probands with large, recurrent deletions encompassing many genes are described. The deletions were associated with developmental delay, mainly affecting speech, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and
congenital breast aplasia. One proband (patient 8) had a small deletion which involved a portion of NRG3 alone but it was paternally inherited.
PMID:20345475 Alliman (2010): 6 patients with recurrent ~7 Mb deletion and dysmorphic features such as macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
-
PUBMED: PMID: 21248748
van Bon (2011): Multiple probands with recurrent duplications encompassing many genes are described. Patients have a distinct facial appearance and delays in speech and motor development. However, the phenotypic spectrum is broad, and duplications have also been found in healthy family members.
Genomic View
Select assembly:
(NC_000010.10)
(NC_000010.11)