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  2. Intestinal failure or congenital diarrhoea
  3. FAT4
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Intestinal failure or congenital diarrhoea

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

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
PMID: 24913602 - reports 5 families in which biallelic variants were found in FAT4 in Hennekam lymphangiectasialymphedema syndrome patients. Lymphangiectasia of the gut is reported in 7/9 individuals from 4 families.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006
OMIM
612411
Clinvar variants
Variants in FAT4
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: FAT4 was added gene: FAT4 was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006