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| Clefting disorders v0.221 | SMARCA4 | Zornitza Stark Marked gene: SMARCA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.221 | SMARCA4 | Zornitza Stark Gene: smarca4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.221 | SMARCA4 | Zornitza Stark Classified gene: SMARCA4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.221 | SMARCA4 | Zornitza Stark Gene: smarca4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.220 | SMARCA4 |
Zornitza Stark gene: SMARCA4 was added gene: SMARCA4 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA4 were set to 25168959; 37010288 Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM# 614609 Review for gene: SMARCA4 was set to GREEN Added comment: There are five unrelated cases with cleft plate and one case each with submucous cleft palate and bifid uvula. PMID:25168959 - 4 of 12 patients with variants in SMARCA4 had cleft palate and another patient had submucous cleft palate. DECIPHER database - One of 22 patients with heterozygous sequence variants had cleft palate and another patient had bifid uvula (PMID:37010288) Sources: Expert Review |
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