Clefting
Gene: CTNND1
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).Created: 1 Sep 2020, 5:16 p.m. | Last Modified: 1 Sep 2020, 5:26 p.m.
Panel Version: 2.3
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BLEPHAROCHEILODONTIC
Publications
Publications for gene: CTNND1 were set to 28301459
Victorian Clinical Genetics Services was added to CTNND1. Panel: Clefting Phenotypes for gene CTNND1 were set to BLEPHAROCHEILODONTIC, Cleft palate
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
CTNND1 was created by ellenmcdonagh
CTNND1 was added to Cleftingpanel. Sources: Expert Review Green