CTNND1

catenin delta 1
OMIM: 601045, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CTNND1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Blepharocheilodontic syndrome 2, MIM# 617681

Amber CTNND1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Blepharocheilodontic syndrome 2, MIM# 617681

Green CTNND1 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.86

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Blepharocheilodontic syndrome 2 MIM#617681

Green CTNND1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Blepharocheilodontic syndrome 2, MIM# 617681

Green CTNND1 in Choanal atresia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Blepharocheilodontic syndrome 2, MIM# 617681
  • MONDO:0040503
  • chonal atresia

Green CTNND1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Blepharocheilodontic syndrome 2, MIM# 617681