CTNNA1

catenin alpha 1
OMIM: 116805, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CTNNA1 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.177
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
Green CTNNA1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.71
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • RetNet
Phenotypes
  • Macular dystrophy, patterned, 2, OMIM:608970
  • exudative vitreoretinopathy, MONDO:0019516
Green CTNNA1 in Hereditary diffuse gastric cancer


Version 2.1
Latest signed off version: v2.0 (20 Dec 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green