RettBASE
General information
Personnel
- John Christodoulou
- Gladys Ho
Phone: +61298451446
Email: gladys.ho@health.nsw.gov.au - Rahul Krishnaraj, Contact
Phone: +61298451446
Email: rahul.krishnaraj@health.nsw.gov.au
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 1097
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CDKL5 | 241 | Aug 8, 2016 |
| FOXG1 | 28 | Nov 21, 2014 |
| IRAK1 | 6 | Nov 21, 2014 |
| LOC121853052 | 3 | Nov 21, 2014 |
| LOC130068854 | 7 | Aug 8, 2016 |
| MECP2 | 828 | Aug 8, 2016 |
| RS1 | 15 | Nov 21, 2014 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Angelman syndrome | 9 | Nov 21, 2014 |
| Attention deficit hyperactivity disorder | 2 | Aug 8, 2016 |
| Atypical Rett syndrome | 53 | Nov 21, 2014 |
| Autism | 2 | Nov 21, 2014 |
| Autism, susceptibility to, X-linked 3 | 28 | Aug 8, 2016 |
| Developmental and epileptic encephalopathy, 2 | 87 | Nov 21, 2014 |
| Rett syndrome | 444 | Aug 8, 2016 |
| Rett syndrome, congenital variant | 21 | Nov 21, 2014 |
| Schizophrenia | 1 | Nov 21, 2014 |
| Severe neonatal-onset encephalopathy with microcephaly | 13 | Nov 21, 2014 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 37 | Aug 8, 2016 |
| not provided | 177 | Nov 21, 2014 |
| not specified | 223 | Nov 21, 2014 |