FAT1

FAT atypical cadherin 1
OMIM: 600976, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FAT1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.0

1 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 2.0

2 reviews 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 1.0

2 reviews 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 1.0

1 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 2.0

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