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Clefting

Gene: CTNND1

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

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Created: 1 Sep 2020, 5:16 p.m.
Last Modified: 1 Sep 2020, 5:26 p.m.
Panel version: 2.3

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
BLEPHAROCHEILODONTIC

Publications

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • BLEPHAROCHEILODONTIC
  • Cleft palate
OMIM
601045
Clinvar variants
Variants in CTNND1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CTNND1 were set to 28301459

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to CTNND1. Panel: Clefting Phenotypes for gene CTNND1 were set to BLEPHAROCHEILODONTIC, Cleft palate

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CTNND1 was created by ellenmcdonagh

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CTNND1 was added to Cleftingpanel. Sources: Expert Review Green