| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v1.0 | RHEB | Gene migrated from ENSG00000106615 to ENSG00000106615 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.50 | RHEB | Zornitza Stark Marked gene: RHEB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.50 | RHEB | Zornitza Stark Gene: rheb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.50 | RHEB | Zornitza Stark Classified gene: RHEB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.50 | RHEB | Zornitza Stark Gene: rheb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.49 | RHEB |
Zornitza Stark gene: RHEB was added gene: RHEB was added to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly. Sources: Literature somatic tags were added to gene: RHEB. Mode of inheritance for gene: RHEB was set to Other Publications for gene: RHEB were set to 41940182; 35687047 Phenotypes for gene: RHEB were set to Focal cortical dysplasia, MONDO:0019009, RHEB-related Review for gene: RHEB was set to AMBER Added comment: Somatic mosaic RHEB variants causing focal cortical dysplasia type IIa/IIb were reported in two independent individuals (PMIDs 41940182, 35687047) Sources: Literature |
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