1. Panels
  2. Combined Immunodeficiency
  3. FAT4
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Combined Immunodeficiency

Gene: FAT4

Green List (high evidence)
FAT4 (FAT atypical cadherin 4)
EnsemblGeneIds (GRCh38): ENSG00000196159
EnsemblGeneIds (GRCh37): ENSG00000196159
OMIM: 612411, Gene2Phenotype
FAT4 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 4 Apr 2020, 3:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006; Low/variable T and B cells; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features

Created: 4 Apr 2020, 3:15 a.m.

Panel version: 0.80

Details

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

History Filter Activity

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fat4 has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fat4 has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAT4 was added gene: FAT4 was added to Combined Immunodeficiency. Sources: Expert list 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, MIM# 616006; Low/variable T and B cells; Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features Review for gene: FAT4 was set to GREEN