FAT4

FAT atypical cadherin 4
OMIM: 612411, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber FAT4 in Periventricular Grey Matter Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Australian Genomics Health Alliance Brain Malformation Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Van Maldergem syndrome 2, MIM# 615546

Green FAT4 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006
  • Van Maldergem syndrome 2 MIM#615546

Green FAT4 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hennekam Syndrome, MIM# 235510
  • childhood pulmonary lymphangiectasia

Green FAT4 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green FAT4 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006
  • Low/variable T and B cells
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features

Green FAT4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Hennekam syndrome MONDO:0016256
  • van Maldergem syndrome MONDO:0017813

Green FAT4 in Lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • London South GLH
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
  • Van Maldergem syndrome 2, 615546

Green FAT4 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)

Green FAT4 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006
  • Van Maldergem syndrome 2 MIM#615546

Green FAT4 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006
  • Van Maldergem syndrome 2 MIM#615546

Green FAT4 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006
  • Van Maldergem syndrome 2 MIM#615546