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 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

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


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

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


Level 2: Inherited cancer
Version 2.5
Latest signed off version: v2.0 (20 Dec 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CTNNA1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100256