PanelApp
  1. Genes and Genomic Entities
  2. FAT1

FAT1

FAT atypical cadherin 1
OMIM: 600976, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FAT1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.7

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Focal segmental glomerulosclerosis (MONDO:0100313), FAT1-related

Green FAT1 in Mendeliome


Version 2.588

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Focal segmental glomerulosclerosis (MONDO:0100313), FAT1-related
  • Facioscapulohumeral muscular dystrophy (MONDO:0001347), FAT1-related

Green FAT1 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 1.3

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Focal segmental glomerulosclerosis (MONDO:0100313), FAT1-related

    Red FAT1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Facioscapulohumeral muscular dystrophy (MONDO:0001347), FAT1-related

    Green FAT1 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.12

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Focal segmental glomerulosclerosis (MONDO:0100313), FAT1-related

    Green FAT1 in Fetal anomalies


    Version 2.81

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