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

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 28

Gene

GeneSubmissionsLast Updated
ADGRB21Jul 19, 2017
ATP13A21Aug 5, 2014
ATXN7L3-AS11Sep 12, 2017
CCDC474Sep 24, 2018
DARS11Aug 5, 2014
ERCC61Aug 5, 2014
ERCC6-PGBD31Aug 5, 2014
GRIN2B1Aug 5, 2014
MED232Aug 5, 2014
MOGS1Oct 26, 2015
NAGLU2Aug 5, 2014
PANK22Aug 5, 2014
PIGT2Aug 5, 2014
RAI11Aug 5, 2014
SLC12A22Jan 28, 2019
SMS1Aug 26, 2014
STIM11Aug 5, 2014
UBTF1Sep 12, 2017
WDR374May 7, 2019

Condition

NameSubmissionsLast Updated
Cockayne syndrome B1Aug 5, 2014
Congenital cerebellar hypoplasia4May 7, 2019
Congenital disorder of glycosylation type 2B1Oct 26, 2015
Congenital ocular coloboma4May 7, 2019
Developmental delay4May 7, 2019
Dysmorphism4May 7, 2019
Epilepsy4May 7, 2019
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair4Sep 24, 2018
Hypomyelination with brainstem and spinal cord involvement and leg spasticity1Aug 5, 2014
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration2Aug 5, 2014
Infant onset multiple organ failure1Oct 6, 2016
Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability1Sep 12, 2017
Intellectual disability4May 7, 2019
Kilquist syndrome1Jan 28, 2019
Kufor-Rakeb syndrome1Aug 5, 2014
Mental retardation, autosomal dominant 61Aug 5, 2014
Mental retardation, autosomal recessive 182Aug 5, 2014
Mucopolysaccharidosis, MPS-III-B2Aug 5, 2014
Multiple congenital anomalies-hypotonia-seizures syndrome 32Aug 5, 2014
Progressive spastic paraparesis1Jul 19, 2017
Smith-Magenis syndrome1Aug 5, 2014
Syndromic X-linked intellectual disability Snyder type1Aug 26, 2014
not provided1Aug 5, 2014
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