ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel (ClinGen), Rett/AS VCEP
FDA Recognized Database
General information
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel, Rett/AS VCEP
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50022/
Organization ID: 508065
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50022/
Organization ID: 508065
Expert panel documentation
Personnel
- Soma Das, Contact
Phone: 773-834-1036
Email: sdas@bsd.uchicago.edu - Dianalee McKnight, Contact
Phone: 240-601-2581
Email: dee.mcknight@invitae.com
Assertion criteria
Level: Expert Panel
- ClinGen RettAS ACMG Specifications CDKL5 V3.0.0
- ClinGen RettAS ACMG Specifications FOXG1 V3.0.0
- ClinGen RettAS ACMG Specifications MECP2 V3.0.0
- ClinGen RettAS ACMG Specifications SLC9A6 V3.0.0
- ClinGen RettAS ACMG Specifications TCF4 V3.0.0
- ClinGen RettAS ACMG Specifications UBE3A V3
- ClinGen RettAS ACMG Specifications UBE3A V4.0.0
- ClinGen RettAS ACMG Specifications V1
- ClinGen RettAS ACMG Specifications V2
- ClinGen RettAS ACMG Specifications V2
Summary of submissions to ClinVar
Total submissions: 339
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CDKL5 | 71 | Dec 11, 2023 |
| FOXG1 | 39 | Dec 11, 2023 |
| LOC126862757 | 1 | Dec 11, 2023 |
| LOC130068746 | 3 | Mar 31, 2024 |
| LOC130068747 | 1 | Dec 11, 2023 |
| LOC130068854 | 4 | Dec 23, 2022 |
| MECP2 | 135 | Dec 8, 2023 |
| RS1 | 14 | Dec 8, 2023 |
| SLC9A6 | 24 | Mar 31, 2024 |
| SNHG14 | 47 | Dec 11, 2023 |
| TCF4 | 23 | Mar 31, 2024 |
| TCF4-AS1 | 1 | Jun 3, 2021 |
| UBE3A | 47 | Dec 11, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Angelman syndrome | 47 | Dec 11, 2023 |
| CDKL5 disorder | 71 | Dec 11, 2023 |
| Christianson syndrome | 24 | Mar 31, 2024 |
| FOXG1 disorder | 39 | Dec 11, 2023 |
| Pitt-Hopkins syndrome | 23 | Mar 31, 2024 |
| Rett syndrome | 135 | Dec 8, 2023 |