AMOTL1

angiomotin like 1
OMIM: 614657, Gene2Phenotype

3 panels

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

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

review Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Green AMOTL1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    • Other
    Phenotypes
    • tall stature
    • cardiac anomalies
    • orofacial clefting
    • AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature
    Tags
    • gene-checked
    Green AMOTL1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • cleft lip/palate MONDO:0016044
    • imperforate anus
    • dysmorphism