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Congenital fibrosis of the extraocular muscles v1.7 | TUBB3 | Ivone Leong Phenotypes for gene: TUBB3 were changed from CFEOM3A; Fibrosis of extraocular muscles, congenital, 3A 600638 to Fibrosis of extraocular muscles, congenital, 3A, OMIM:600638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital fibrosis of the extraocular muscles v0.8 | TUBB3 | Morag Shanks reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20074521, 27428177; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital fibrosis of the extraocular muscles v0.7 | TUBB3 |
Ivone Leong Source Wessex and West Midlands GLH was added to TUBB3. Source Expert Review Green was added to TUBB3. Added phenotypes Fibrosis of extraocular muscles, congenital, 3A 600638 for gene: TUBB3 Publications for gene TUBB3 were changed from to 20074521; 27428177 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Congenital fibrosis of the extraocular muscles v0.2 | TUBB3 |
Anna de Burca gene: TUBB3 was added gene: TUBB3 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB3 were set to CFEOM3A Review for gene: TUBB3 was set to AMBER Added comment: Sources: Literature |