| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.41 | SLC35A2 | Zornitza Stark edited their review of gene: SLC35A2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.41 | SLC35A2 | Zornitza Stark Marked gene: SLC35A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.41 | SLC35A2 | Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.41 | SLC35A2 | Zornitza Stark Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm (OMIM 300896); mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.40 | SLC35A2 | Zornitza Stark Classified gene: SLC35A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.40 | SLC35A2 | Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 | SLC35A2 | Zornitza Stark Tag somatic tag was added to gene: SLC35A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 | SLC35A2 | Zornitza Stark reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 | SLC35A2 |
Shannon LeBlanc gene: SLC35A2 was added gene: SLC35A2 was added to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly. Sources: Literature Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLC35A2 were set to PMID: 33407896 Phenotypes for gene: SLC35A2 were set to Congenital disorder of glycosylation, type IIm (OMIM 300896); mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Review for gene: SLC35A2 was set to GREEN Added comment: somatic variants reported in MOGHE (PMID 33407896). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||