Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v1.41 | CDK5RAP2 | Ivone Leong Classified gene: CDK5RAP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.41 | CDK5RAP2 | Ivone Leong Added comment: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.41 | CDK5RAP2 | Ivone Leong Gene: cdk5rap2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.40 | CDK5RAP2 | Ivone Leong Tag watchlist tag was added to gene: CDK5RAP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.29 | CDK5RAP2 | Nicola Ragge reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32015000, 31355417; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM:604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v1.28 | CDK5RAP2 |
Ivone Leong gene: CDK5RAP2 was added gene: CDK5RAP2 was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5RAP2 were set to 31355417; 32015000 Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, OMIM:604804, MONDO:0011488 |