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Anophthalmia_Microphthalmia_Coloboma v1.12 | PACS1 | Zornitza Stark Marked gene: PACS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.12 | PACS1 | Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.12 | PACS1 | Zornitza Stark Phenotypes for gene: PACS1 were changed from 615009 to Schuurs-Hoeijmakers syndrome, MIM# 615009 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.11 | PACS1 | Zornitza Stark Classified gene: PACS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.11 | PACS1 | Zornitza Stark Gene: pacs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.7 | PACS1 |
Chris Richmond gene: PACS1 was added gene: PACS1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PACS1 were set to 32672908 Phenotypes for gene: PACS1 were set to 615009 Penetrance for gene: PACS1 were set to Complete Review for gene: PACS1 was set to GREEN gene: PACS1 was marked as current diagnostic Added comment: Multiple papers reporting patients with colobomata - well described. Sources: Literature |