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| Anophthalmia_Microphthalmia_Coloboma v0.141 | ABCB6 | Zornitza Stark Marked gene: ABCB6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.141 | ABCB6 | Zornitza Stark Gene: abcb6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.50 | ABCB6 |
Bryony Thompson gene: ABCB6 was added gene: ABCB6 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCB6 were set to 22226084; 24281366 Phenotypes for gene: ABCB6 were set to Microphthalmia, isolated, with coloboma 7 MIM#614497 Review for gene: ABCB6 was set to RED Added comment: Segregation of a missense variant reported in a single Chinese family. Morpholino knockdown of abcb6 in zebrafish produces a phenotype characteristic of coloboma. The missenses p.Ala57Thr and p.Arg192Gln reported in cases with coloboma are too common in gnomAD for a dominant condition. No convincing evidence reported since the 2012 publication. Sources: Literature |
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