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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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Anophthalmia or microphthalmia v1.15 | SMO | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia or microphthalmia v1.15 | SMO | Rebecca Foulger Mode of inheritance for gene: SMO was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia or microphthalmia | SMO | Louise Daugherty classified SMO as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia or microphthalmia | SMO | Louise Daugherty commented on SMO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia or microphthalmia | SMO | Louise Daugherty commented on SMO | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia or microphthalmia | SMO | Louise Daugherty added SMO to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia or microphthalmia | SMO | Louise Daugherty reviewed SMO |