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| Macrocephaly_Megalencephaly v0.93 | DICER1 |
Krithika Murali gene: DICER1 was added gene: DICER1 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DICER1 were set to 27441995 Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic - OMIM#618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - OMIM#38800; Pleuropulmonary blastoma - OMIM#601200; Rhabdomyosarcoma, embryonal, 2 - #180295 Review for gene: DICER1 was set to GREEN Added comment: PMID 27441995 - 28 DICER1 carriers were macrocephalic (42% of the NCI natural history cohort) versus 12% family controls [statistically significant]. Association independent of height and gender. The authors note this is a subtle but important phenotypic feature which would allow for initiation of cancer surveillance earlier, as with PTEN carriers. Sources: Literature |
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| Macrocephaly_Megalencephaly v0.0 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTEN was set to Unknown |
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