Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo
General information
Personnel
- Ana Marmiesse
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 23
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACYP1 | 1 | Feb 25, 2014 |
| ARSB | 1 | Feb 25, 2014 |
| CHPT1 | 1 | Feb 25, 2014 |
| CLN3 | 1 | Feb 25, 2014 |
| CLN8 | 1 | Feb 25, 2014 |
| CTSA | 2 | Feb 25, 2014 |
| CTSD | 2 | Feb 25, 2014 |
| FUCA1 | 2 | Feb 25, 2014 |
| GLB1 | 3 | Feb 25, 2014 |
| GM2A | 1 | Feb 25, 2014 |
| GNPTAB | 3 | Feb 25, 2014 |
| GUSB | 1 | Feb 25, 2014 |
| HEXA | 2 | Feb 25, 2014 |
| IDUA | 1 | Feb 25, 2014 |
| LOC126805661 | 1 | Feb 25, 2014 |
| NPC2 | 1 | Feb 25, 2014 |
| SLC17A5 | 1 | Feb 25, 2014 |
| SMPD1 | 1 | Feb 25, 2014 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ceroid lipofuscinosis, neuronal, 6A | 1 | Feb 25, 2014 |
| Combined deficiency of sialidase AND beta galactosidase | 2 | Feb 25, 2014 |
| Fucosidosis | 2 | Feb 25, 2014 |
| Hurler syndrome | 1 | Feb 25, 2014 |
| Infantile GM1 gangliosidosis | 3 | Feb 25, 2014 |
| Mucopolysaccharidosis type 6 | 1 | Feb 25, 2014 |
| Mucopolysaccharidosis type 7 | 1 | Feb 25, 2014 |
| Neuronal ceroid lipofuscinosis 10 | 2 | Feb 25, 2014 |
| Neuronal ceroid lipofuscinosis 3 | 1 | Feb 25, 2014 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Feb 25, 2014 |
| Niemann-Pick disease, type C2 | 1 | Feb 25, 2014 |
| Pseudo-Hurler polydystrophy | 3 | Feb 25, 2014 |
| Sialic acid storage disease, severe infantile type | 1 | Feb 25, 2014 |
| Tay-Sachs disease | 3 | Feb 25, 2014 |