AMOTL1

angiomotin like 1
OMIM: 614657, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red AMOTL1 in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.14

review Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Green AMOTL1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Craniofaciocardiohepatic syndrome, OMIM:621192
  • craniofaciocardiohepatic syndrome, MONDO:0978295
Green AMOTL1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    • Other
    Phenotypes
    • AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature
    • Craniofaciocardiohepatic syndrome, OMIM:621192
    • craniofaciocardiohepatic syndrome, MONDO:0978295
    Green AMOTL1 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Craniofaciocardiohepatic syndrome, OMIM:621192
    • craniofaciocardiohepatic syndrome, MONDO:0978295