Meiges disease
Gene: FAT4EnsemblGeneIds (GRCh38): ENSG00000196159
EnsemblGeneIds (GRCh37): ENSG00000196159
OMIM: 612411, Gene2Phenotype
FAT4 is in 8 panels
1 review
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
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- 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
Set publications
Sarah Leigh (Genomics England Curator)Publications for FAT4 were set to 24913602
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FAT4 was changed to BIALLELIC, autosomal or pseudoautosomal
panel promoted to version 1
Richard Scott (Genomics England Curator)Ready for version 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FAT4 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen