| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Callosome v0.568 | TAF2 | Zornitza Stark Marked gene: TAF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.568 | TAF2 | Zornitza Stark Gene: taf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.568 | TAF2 | Zornitza Stark Phenotypes for gene: TAF2 were changed from Intellectual disability, autosomal recessive 40, MIM# 615599 to Intellectual development disorder, autosomal recessive 40, MIM# 615599 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.567 | TAF2 | Zornitza Stark Phenotypes for gene: TAF2 were changed from intellectual disability; epilepsy; thin corpus callosum to Intellectual disability, autosomal recessive 40, MIM# 615599 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.566 | TAF2 | Zornitza Stark Classified gene: TAF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.566 | TAF2 | Zornitza Stark Gene: taf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.565 | TAF2 |
Boris Keren gene: TAF2 was added gene: TAF2 was added to Callosome. Sources: Literature Mode of inheritance for gene: TAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF2 were set to PMID: 34474177 Phenotypes for gene: TAF2 were set to intellectual disability; epilepsy; thin corpus callosum Penetrance for gene: TAF2 were set to Complete Mode of pathogenicity for gene: TAF2 was set to Other Review for gene: TAF2 was set to GREEN gene: TAF2 was marked as current diagnostic Added comment: Most patients have severe intellectual disability, microcephaly, thin corpus callosum. 9 reported patients from 4 families. Only missenses are reported for now but the mechanism is currently unknown Sources: Literature |
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