Choanal atresia

Gene: CTNND1

Green List (high evidence)

CTNND1 (catenin delta 1)
EnsemblGeneIds (GRCh38): ENSG00000198561
EnsemblGeneIds (GRCh37): ENSG00000198561
OMIM: 601045, Gene2Phenotype
CTNND1 is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

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
Sources: Literature
Created: 7 Oct 2020, 5:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
chonal atresia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • chonal atresia
OMIM
601045
Clinvar variants
Variants in CTNND1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ctnnd1 has been classified as Green List (High Evidence).

7 Oct 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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