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| Prepair 1000+ v1.1566 | TBCK | Andrew Coventry reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040691, 30591081, 35095425, 36317458; Phenotypes: Syndromic complex neurodevelopmental disorder MONDO:0800439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | TBCK |
Zornitza Stark gene: TBCK was added gene: TBCK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCK were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive |
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