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  3. FAT1
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Anophthalmia or microphthalmia

Gene: FAT1

Green List (high evidence)
FAT1 (FAT atypical cadherin 1)
EnsemblGeneIds (GRCh38): ENSG00000083857
EnsemblGeneIds (GRCh37): ENSG00000083857
OMIM: 600976, Gene2Phenotype
FAT1 is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence for this gene to be Green on this panel.

This is also a Green gene on the GMS Structural eye disease (Version 1.22) with the following review:
"DB Lahrouchi: five families; Ciani mouse mouse model
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust), 19 Jun 2019"
Created: 9 Dec 2020, 4:19 p.m. | Last Modified: 9 Dec 2020, 4:19 p.m.
Panel Version: 1.32
Created: 9 Dec 2020, 4:19 p.m.
Last Modified: 9 Dec 2020, 4:19 p.m.
Panel version: 1.32

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 families reported with eye abnormalities in addition to the renal phenotype.
Sources: Expert list
Created: 22 May 2020, 9:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2020, 9:41 a.m.

Panel version: 1.23

Details

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

History Filter Activity

3 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: FAT1.

9 Dec 2020, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FAT1 were set to 30862798; 26905694

9 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

22 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FAT1 was added gene: FAT1 was added to Anophthalmia or microphthalmia. Sources: Expert list Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT1 were set to 30862798; 26905694 Phenotypes for gene: FAT1 were set to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy Review for gene: FAT1 was set to GREEN gene: FAT1 was marked as current diagnostic