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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.
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)
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