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 |