Primary lymphoedema

Gene: FAT4

Green List (high evidence)

FAT4 (FAT atypical cadherin 4)
EnsemblGeneIds (GRCh38): ENSG00000196159
EnsemblGeneIds (GRCh37): ENSG00000196159
OMIM: 612411, Gene2Phenotype
FAT4 is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Pia Ostergaard (St George's)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary lymphoedema; Hennekam syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
  • Van Maldergem syndrome 2, 615546
OMIM
612411
Clinvar variants
Variants in FAT4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to FAT4. Rating Changed from Green List (high evidence) to Green List (high evidence)

2 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

30 Sep 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

FAT4 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FAT4 was created by sleigh