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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: FAT4

Green List (high evidence)
FAT4 (FAT atypical cadherin 4)
EnsemblGeneIds (GRCh38): ENSG00000196159
EnsemblGeneIds (GRCh37): ENSG00000196159
OMIM: 612411, Gene2Phenotype
FAT4 is in 8 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Low/variable T and B cells
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
  • Hennekam lymphangiectasia-lymphedema syndrome 2, MIM#616006
OMIM
612411
Clinvar variants
Variants in FAT4
Penetrance
None
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FAT4 was added gene: FAT4 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAT4 were set to Low/variable T and B cells; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features; Hennekam lymphangiectasia-lymphedema syndrome 2, MIM#616006