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Hand and foot malformations

Gene: FAT1

Green List (high evidence)
FAT1 (FAT atypical cadherin 1)
EnsemblGeneIds (GRCh38): ENSG00000083857
EnsemblGeneIds (GRCh37): ENSG00000083857
OMIM: 600976, Gene2Phenotype
FAT1 is in 5 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- 5 consanguineous families with homozygous frameshift mutations in FAT1
- FAT1 KO mice had microphthalmia, with fully penetrant coloboma which was not observed in heterozygous mice
- in human retinal pigment epithelium (RPE) cells, FAT1 knockdown resulted in compromised early cell-cell junction integrity and filament organisation
Created: 22 May 2020, 3:04 a.m. | Last Modified: 14 Apr 2021, 5:14 a.m.
Panel Version: 0.7172

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy

Publications

Created: 22 May 2020, 3:04 a.m.
Last Modified: 14 Apr 2021, 5:14 a.m.
Panel version: Imported from Mendeliome panel version 0.2860

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • facial dysmorphism
  • colobomatous microphthalmia
  • ptosis
  • syndactyly with or without nephropathy
OMIM
600976
Clinvar variants
Variants in FAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fat1 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy

22 Sep 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FAT1 were set to

22 Sep 2021, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fat1 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: FAT1 was added gene: FAT1 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: FAT1 was set to Unknown