• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CTNNB1 (HGNC:2514) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
catenin beta 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CTNNB
Alias symbols
beta-catenin, armadillo
%HI
0.18(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.13(Read more about gnomAD LOEUF score)
Cytoband
3p22.1
Genomic Coordinates
GRCh37/hg19: chr3:41240996-41281934 NCBI Ensembl UCSC
GRCh38/hg38: chr3:41199505-41240443 NCBI Ensembl UCSC
MANE Select Transcript
NM_001904.4 ENST00000349496.11 (Read more about MANE Select)
Function
Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N- terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15695
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/22/2017

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • severe intellectual disability-progressive spastic diplegia syndrome Monarch
HI Evidence:
  • PUBMED: 27915094
    In the DDD study, Kharbanda et al. identified 10 probands with de novo loss of function (truncating) sequence variants in CTNNB1. The common phenotype included intellectual disability, postnatal microcephaly, truncal hypotonia and peripheral spasticity, mild dysmorphic features and behavioural problems. An additional proband was identified in the DECIPHER database with overlapping phenotypic features but clinical information was incomplete.
  • PUBMED: 23033978
    In 3 patients with severe intellectual disability, microcephaly, and spasticity, de Ligt et al identified heterozygous loss-of-function mutations in the CTNNB1 gene. Two were de novo and the third could not be resolved for inheritance (dad was unavailable).
  • PUBMED: 25326669
    16 individuals from 15 families were found to have newly identified loss-of-function CTNNB1 mutations. Virtually all were de novo events. Phenotype included intellectual disability, motor delay, speech impairment, and abnormal muscle tone (truncal hypotonia and distal hypertonia/spasticity).
HI Evidence Comments:
Additional PMIDs: 28575650; 28514307; 24668549; 26968164

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)