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| Deafness_IsolatedAndComplex v1.58 | CDK5RAP2 | Zornitza Stark Marked gene: CDK5RAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.58 | CDK5RAP2 | Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.58 | CDK5RAP2 | Zornitza Stark Classified gene: CDK5RAP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.58 | CDK5RAP2 | Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.57 | CDK5RAP2 |
Zornitza Stark gene: CDK5RAP2 was added gene: CDK5RAP2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5RAP2 were set to 15793586; 22887808; 23995685; 23726037; 27761245; 20460369; 32677750; 32015000 Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488 Review for gene: CDK5RAP2 was set to GREEN Added comment: More than 10 unrelated families and an animal model support gene-disease association. In addition to microcephaly and ID, a recent series of 7 deeply phenotyped individuals also reported small cochlea with incomplete partition type II was found in all cases, which was associated with progressive deafness in 4. Microphthalmia was also present in all along with retinal pigmentation changes and lipofuscin deposits. Finally, hypothalamic anomalies consisting of interhypothalamic adhesions, a congenital midline defect usually associated with holoprosencephaly, was detected in 5 cases. Sources: Expert Review |
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