Choanal atresiaGene: CTNND1
Comment on list classification: Rating this gene green. Choanal atresia has been observed in 3 families with variants in this gene.
Created: 7 Oct 2020, 5:36 p.m. | Last Modified: 7 Oct 2020, 5:36 p.m.
Panel Version: 1.15
PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13). Chonal atresia was seen in 4 individuals from 3 families
Created: 7 Oct 2020, 5:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: ctnnd1 has been classified as Green List (High Evidence).
gene: CTNND1 was added gene: CTNND1 was added to Choanal atresia. Sources: Literature Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNND1 were set to 32196547 Phenotypes for gene: CTNND1 were set to chonal atresia