Structural eye disease
Gene: CDK5RAP2Comment 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.Created: 20 Jan 2021, 10:51 a.m. | Last Modified: 20 Jan 2021, 10:51 a.m.
Panel Version: 1.41
Nasser et al described seven patients from five unrelated families with biallelic variants and syndromic (mild) microphthalmia - definition of microphthalmia is borderline. Zaqout et al. reported that mutant mice exhibit microphthalmia/anophthalmiaCreated: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 3, primary, autosomal recessive, MIM:604804
Publications
Gene: cdk5rap2 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: CDK5RAP2.
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