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| Structural eye disease v0.76 | FBN1 | Nicola Ragge reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1301946, 8136837; Phenotypes: Ectopia lentis, familial, Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Marfan lipodystrophy syndrome, 129600, 154700, 604308, 608328, 616914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | FBN1 | Ivone Leong edited their review of gene: FBN1: Changed phenotypes: Ectopia lentis, familial, Marfan syndrome, MASS syndrome, Weill-Marchesani syndrome 2, dominant, Marfan lipodystrophy syndrome, 129600, 154700, 604308, 608328, 616914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | FBN1 | Ivone Leong reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1301946, 8136837; Phenotypes: Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | FBN1 |
Ivone Leong gene: FBN1 was added gene: FBN1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 1301946, 8136837 Phenotypes for gene: FBN1 were set to Marfan syndrome, 154700; Weill-Marchesani syndrome 2, dominant, 608328; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Ectopia lentis, familial, 129600 |
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