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Bilateral congenital or childhood onset cataracts v3.3 | CDK9 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CDK9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v3.3 | CDK9 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: CDK9. Tag Q3_22_MOI was removed from gene: CDK9. |
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Bilateral congenital or childhood onset cataracts v3.3 | CDK9 | Achchuthan Shanmugasundram reviewed gene: CDK9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v3.2 | CDK9 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CDK9. Source NHS GMS was added to CDK9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Bilateral congenital or childhood onset cataracts v2.111 | CDK9 | Sarah Leigh Entity copied from Intellectual disability v3.1716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.111 | CDK9 |
Sarah Leigh gene: CDK9 was added gene: CDK9 was added to Cataracts. Sources: Literature,Expert Review Amber Q3_22_rating, Q3_22_MOI tags were added to gene: CDK9. Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK9 were set to 26633546; 30237576; 29302074; 33640901 Phenotypes for gene: CDK9 were set to 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 Penetrance for gene: CDK9 were set to Complete |