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| Structural eye disease v1.152 | FAM126A | Eleanor Williams commented on gene: FAM126A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.152 | FAM126A | Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | FAM126A | Nicola Ragge reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | FAM126A | Ivone Leong edited their review of gene: FAM126A: Changed phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | FAM126A | Ivone Leong reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectopia lentis, familial, 129600, Marfan syndrome, 154700, MASS syndrome, 604308, Weill-Marchesani syndrome 2, dominant, 608328, Marfan lipodystrophy syndrome, 616914; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | FAM126A |
Ivone Leong gene: FAM126A was added gene: FAM126A was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532 |
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