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Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Marked gene: OCRL as ready
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v0.204 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Lowe syndrome, MIM# 309000
Anophthalmia_Microphthalmia_Coloboma v0.203 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.202 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Anophthalmia_Microphthalmia_Coloboma v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OCRL was set to Unknown