Primary lymphoedema
Gene: FAT4EnsemblGeneIds (GRCh38): ENSG00000196159
EnsemblGeneIds (GRCh37): ENSG00000196159
OMIM: 612411, Gene2Phenotype
FAT4 is in 8 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary lymphoedema; Hennekam syndrome
Publications
- [PMID: 24913602]
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
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)
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
Added New Source
Sarah Leigh (Genomics England Curator)FAT4 was added to Lymphatic Disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)FAT4 was created by sleigh