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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