FAT1

FAT atypical cadherin 1
OMIM: 600976, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FAT1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • facial dysmorphism
  • colobomatous microphthalmia
  • ptosis
  • syndactyly with or without nephropathy

Green FAT1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • syndromic disease MONDO:0002254, FAT1-related
  • facial dysmorphism
  • colobomatous microphthalmia
  • ptosis
  • syndactyly with or without nephropathy

Green FAT1 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.229

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • facial dysmorphism
    • colobomatous microphthalmia
    • ptosis
    • syndactyly with or without nephropathy

    Green FAT1 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • facial dysmorphism
    • colobomatous microphthalmia
    • ptosis
    • syndactyly with or without nephropathy

    Green FAT1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • multiple congenital anomalies
    • nephropathy
    • ocular anomalies
    • hand and foot anomalies