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| Severe microcephaly v4.48 | PSMC3 | Achchuthan Shanmugasundram Classified gene: PSMC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.48 | PSMC3 | Achchuthan Shanmugasundram Gene: psmc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.47 | PSMC3 |
Achchuthan Shanmugasundram gene: PSMC3 was added gene: PSMC3 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMC3 were set to 37256937 Phenotypes for gene: PSMC3 were set to neurodevelopmental disorder, MONDO:0700092; microcephaly, MONDO:0001149 Review for gene: PSMC3 was set to AMBER Added comment: 23 individuals with neurodevelopmental disorder were identified with 15 different de novo missense variants. Microcephaly was reported in in 6/17 (35%) cases, of which severe macrocephaly was in 2/16 (13%) cases. Sources: Literature |
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| Severe microcephaly v1.62 | SMC3 | Louise Daugherty reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | SMC3 | Louise Daugherty Source NHS GMS was added to SMC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly | SMC3 | Rebecca Foulger classified SMC3 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly | SMC3 | Rebecca Foulger commented on SMC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||