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Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Hennekam lymphangiectasia-lymphedema syndrome: 9 patients from 5 unrelated families with Hennekam lymphangiectasia-lymphedema syndrome (PMID: 24913602). Variable phenotype between affected individuals - characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment. Neonatal onset.

Van Maldergem syndrome - some overlapping features with HennekamLLS. Characterized by intellectual disability, typical craniofacial features, hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Also, neonatal hypotonia and feeding problems can occur. Animal model present. Neonatal onset.
Created: 2 Sep 2024, 6:40 a.m. | Last Modified: 2 Sep 2024, 6:40 a.m.
Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546

Publications

Created: 2 Sep 2024, 6:40 a.m.
Last Modified: 2 Sep 2024, 6:40 a.m.
Panel version: 1.248

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006
  • Van Maldergem syndrome 2 MIM#615546
OMIM
612411
Clinvar variants
Variants in FAT4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

6 Sep 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: FAT4 were changed from Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546

6 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: FAT4 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) for gene: FAT4

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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, 616006 (3)