GenomeConnect-Association for Creatine Deficiencies (Association for Creatine Deficiencies), ACD
General information
GenomeConnect-Association for Creatine Deficiencies, ACD
Association for Creatine Deficiencies
Lewisburg
United States
http://creatineinfo.iamrare.org
Organization ID: 507206
Association for Creatine Deficiencies
Lewisburg
United States
http://creatineinfo.iamrare.org
Organization ID: 507206
Personnel
- Sofia Balog, Staff
Phone: NA
Email: registry@creatineinfo.org - Emily Reinhardt, Staff
Phone: NA
Email: registry@creatineinfo.org - Juliann Savatt, Genetic Counselor
Phone: 570-214-1721
Email: datashare@clinicalgenome.org - Laura Trutoiu, PhD, Principal Investigator
Phone: NA
Email: auract@creatineinfo.org
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 39
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ARX | 1 | Oct 24, 2019 |
| C3orf20 | 2 | Oct 24, 2019 |
| CBS | 1 | Oct 24, 2019 |
| CCDC88A | 1 | Oct 24, 2019 |
| DKC1 | 1 | Oct 24, 2019 |
| FANCI | 1 | Oct 24, 2019 |
| GAMT | 7 | Dec 30, 2022 |
| GNL2 | 2 | Oct 24, 2019 |
| KAT6A | 1 | Oct 24, 2019 |
| KRBA1 | 2 | Oct 24, 2019 |
| LOC109610631 | 1 | Oct 24, 2019 |
| LOC126805705 | 1 | Oct 24, 2019 |
| LOC130062945 | 2 | Oct 24, 2019 |
| LOC130068886 | 1 | Oct 24, 2019 |
| MT-TI | 1 | Oct 24, 2019 |
| NRXN1 | 1 | Dec 29, 2021 |
| PEX7 | 1 | Oct 24, 2019 |
| POLG | 1 | Oct 24, 2019 |
| POLGARF | 1 | Oct 24, 2019 |
| SLC6A8 | 10 | Dec 29, 2021 |
| TAF5 | 1 | Oct 24, 2019 |
| ZNF746 | 2 | Oct 24, 2019 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Association with valproate-induced liver toxicity | 1 | Oct 24, 2019 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Oct 24, 2019 |
| Chromosome 2p16.3 deletion syndrome | 1 | Dec 29, 2021 |
| Classic homocystinuria | 1 | Oct 24, 2019 |
| Corpus callosum agenesis-abnormal genitalia syndrome | 1 | Oct 24, 2019 |
| Creatine transporter deficiency | 9 | Dec 29, 2021 |
| Deficiency of guanidinoacetate methyltransferase | 6 | Dec 30, 2022 |
| Developmental and epileptic encephalopathy, 1 | 1 | Oct 24, 2019 |
| Dyskeratosis congenita, X-linked | 1 | Oct 24, 2019 |
| Guanidinoacetate methyltransferase (GAMT) deficiency | 1 | Oct 24, 2019 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Oct 24, 2019 |
| PEHO syndrome | 1 | Oct 24, 2019 |
| Partington syndrome | 1 | Oct 24, 2019 |
| Pitt-Hopkins-like syndrome 2 | 1 | Dec 29, 2021 |
| Rhizomelic chondrodysplasia punctata type 1 | 1 | Oct 24, 2019 |
| not provided | 15 | Oct 24, 2019 |