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| Mendeliome v0.236 | SMARCD1 | Zornitza Stark Marked gene: SMARCD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.236 | SMARCD1 | Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.236 | SMARCD1 | Zornitza Stark Classified gene: SMARCD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.236 | SMARCD1 | Zornitza Stark Gene: smarcd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.235 | SMARCD1 |
Zornitza Stark gene: SMARCD1 was added gene: SMARCD1 was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCD1 were set to 30879640 Phenotypes for gene: SMARCD1 were set to Intellectual disability; dysmorphic features Review for gene: SMARCD1 was set to GREEN Added comment: 5 individuals with heterozygous SMARCD1 variants (4 de novo, 1 unk), and developmental delay, intellectual disability, hypotonia, feeding difficulties, dysmorphisms, and small hands and feet. Sources: Literature |
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