FAT1

FAT atypical cadherin 1
OMIM: 600976, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green FAT1 in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • hand and foot anomalies
  • nephropathy
  • ocular anomalies
  • multiple congenital anomalies
Tags
  • gene-checked
Green FAT1 in Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.56

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • facial dysmorphism
  • colobomatous microphthalmia
  • ptosis
  • syndactyly with or without nephropathy
Tags
  • gene-checked
Green FAT1 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
  • gene-checked
Green FAT1 in Proteinuric renal disease


Level 2: Renal
Version 5.7
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Glomerulotubular nephropathy
    Tags
    • gene-checked