Lymphoedema_syndromic
Gene: FAT4
FAT4 (FAT atypical cadherin 4)
EnsemblGeneIds (GRCh38): ENSG00000196159
EnsemblGeneIds (GRCh37): ENSG00000196159
OMIM: 612411, Gene2Phenotype
FAT4 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000196159
EnsemblGeneIds (GRCh37): ENSG00000196159
OMIM: 612411, Gene2Phenotype
FAT4 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- 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
- OMIM
- 612411
- Clinvar variants
- Variants in FAT4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Fetal anomalies
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- Lymphoedema_syndromic
- Periventricular Grey Matter Heterotopia
- Prepair 500+
- Lymphoedema_nonsyndromic
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Callosome
History Filter Activity
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: FAT4 was added gene: FAT4 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT4 were set to 24913602 Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546