Anophthalmia or microphthalmia
Gene: FAT1Comment 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
5 families reported with eye abnormalities in addition to the renal phenotype.
Sources: Expert listCreated: 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
Tag gene-checked tag was added to gene: FAT1.
Publications for gene: FAT1 were set to 30862798; 26905694
Gene: fat1 has been classified as Green List (High Evidence).
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