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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.5 | FAT1 | Lucy Spencer Phenotypes for gene: FAT1 were changed from syndromic disease MONDO:0002254, FAT1-related; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to Facioscapulohumeral muscular dystrophy (MONDO:0001347), FAT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.4 | FAT1 | Lucy Spencer Publications for gene: FAT1 were set to 30862798 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.3 | FAT1 | Lucy Spencer Mode of inheritance for gene: FAT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.2 | FAT1 | Lucy Spencer Classified gene: FAT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.2 | FAT1 | Lucy Spencer Gene: fat1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.1 | Lucy Spencer Copied gene FAT1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.1 | FAT1 |
Lucy Spencer gene: FAT1 was added gene: FAT1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT1 were set to 30862798 Phenotypes for gene: FAT1 were set to syndromic disease MONDO:0002254, FAT1-related; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy |
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