Undiagnosed Diseases Program Translational Research Laboratory
(National Institutes of Health), UDP
General information
Undiagnosed Diseases Program Translational Research Laboratory, UDP
National Institutes of Health
Bethesda
United States
Organization ID: 505589
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 32
Gene
| Gene | Submissions | Last Updated |
|---|
| ADGRB2 | 1 | Jul 19, 2017 |
| ATG4D | 4 | Nov 18, 2022 |
| ATP13A2 | 1 | Aug 5, 2014 |
| ATXN7L3-AS1 | 1 | Sep 12, 2017 |
| CCDC47 | 4 | Sep 24, 2018 |
| DARS1 | 1 | Aug 5, 2014 |
| ERCC6 | 1 | Aug 5, 2014 |
| GRIN2B | 1 | Aug 5, 2014 |
| MED23 | 2 | Aug 5, 2014 |
| MIR103A2 | 1 | Aug 5, 2014 |
| MIR103B2 | 1 | Aug 5, 2014 |
| MOGS | 1 | Oct 26, 2015 |
| NAGLU | 2 | Aug 5, 2014 |
| PANK2 | 2 | Aug 5, 2014 |
| PIGT | 2 | Aug 5, 2014 |
| RAI1 | 1 | Aug 5, 2014 |
| SLC12A2 | 2 | Jan 28, 2019 |
| SMS | 1 | Aug 26, 2014 |
| STIM1 | 1 | Aug 5, 2014 |
| UBTF | 1 | Sep 12, 2017 |
| WDR37 | 4 | May 7, 2019 |
Condition
| Name | Submissions | Last Updated | | ASHER | 3 | Oct 17, 2021 |
| Cockayne syndrome type 2 | 1 | Aug 5, 2014 |
| Congenital cerebellar hypoplasia | 4 | May 7, 2019 |
| Congenital ocular coloboma | 4 | May 7, 2019 |
| Developmental delay | 4 | May 7, 2019 |
| Dysmorphism | 4 | May 7, 2019 |
| Epilepsy | 4 | May 7, 2019 |
| Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair | 4 | Sep 24, 2018 |
| Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 1 | Aug 5, 2014 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 2 | Aug 5, 2014 |
| Infant onset multiple organ failure | 1 | Oct 6, 2016 |
| Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability | 1 | Sep 12, 2017 |
| Intellectual disability | 4 | May 7, 2019 |
| Intellectual disability, autosomal dominant 6 | 1 | Aug 5, 2014 |
| Intellectual disability, autosomal recessive 18 | 2 | Aug 5, 2014 |
| Kilquist syndrome | 1 | Jan 28, 2019 |
| Kufor-Rakeb syndrome | 1 | Aug 5, 2014 |
| MOGS-congenital disorder of glycosylation | 1 | Oct 26, 2015 |
| Mucopolysaccharidosis, MPS-III-B | 2 | Aug 5, 2014 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 2 | Aug 5, 2014 |
| Progressive spastic paraparesis | 1 | Jul 19, 2017 |
| See cases | 1 | Nov 18, 2022 |
| Smith-Magenis syndrome | 1 | Aug 5, 2014 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Aug 26, 2014 |
| not provided | 1 | Aug 5, 2014 |
