Genomics England
GMS Panels
Panels
Genes and Entities

CDK9

cyclin dependent kinase 9
OMIM: 603251
PanelMode of inheritanceDetails
1 panel
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Abnormality of vision, Congenital cataract, Iris coloboma, Abnormal heart morphology, Choanal atresia, Abnormality of the ear, Preauricular skin tag, Hearing impairment, Abnormality of the genitourinary system, Abnormality of limbs, Abnormality of the vertebrae, Abnormality of nervous system morphology, Seizures