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| Anophthalmia or microphthalmia v1.45 | FAT1 | Arina Puzriakova Tag gene-checked tag was added to gene: FAT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.33 | FAT1 | Ivone Leong Publications for gene: FAT1 were set to 30862798; 26905694 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.32 | FAT1 | Ivone Leong Classified gene: FAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.32 | FAT1 |
Ivone Leong Added comment: 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" |
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| Anophthalmia or microphthalmia v1.32 | FAT1 | Ivone Leong Gene: fat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia or microphthalmia v1.23 | FAT1 |
Zornitza Stark 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 Added comment: 5 families reported with eye abnormalities in addition to the renal phenotype. Sources: Expert list |
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