CTNNB1 |
- 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)