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| Regression v0.604 | ZBTB11 | Zornitza Stark Marked gene: ZBTB11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.604 | ZBTB11 | Zornitza Stark Gene: zbtb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.604 | ZBTB11 | Zornitza Stark Publications for gene: ZBTB11 were set to 29893856 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.603 | ZBTB11 |
Zornitza Stark changed review comment from: 2 consanguineous families in which several members had impaired intellectual development. 2 different homozygous missense mutations in the ZBTB11 gene. In vitro functional expression studies in HEK293 cells showed that the mutant proteins were excluded from the nucleolus, where the wildtype protein is predominantly localized.; to: 2 consanguineous families in which several members had impaired intellectual development. 2 different homozygous missense mutations in the ZBTB11 gene. In vitro functional expression studies in HEK293 cells showed that the mutant proteins were excluded from the nucleolus, where the wildtype protein is predominantly localized. Regression is part of the phenotype. |
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| Regression v0.603 | Zornitza Stark Copied gene ZBTB11 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.603 | ZBTB11 |
Zornitza Stark gene: ZBTB11 was added gene: ZBTB11 was added to Regression. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZBTB11 were set to 29893856 Phenotypes for gene: ZBTB11 were set to Intellectual developmental disorder, autosomal recessive 69, OMIM #618383 |
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