Undiagnosed Diseases Network (National Institutes of Health), UDN

General information

Undiagnosed Diseases Network, UDN
National Institutes of Health
Bethesda
Maryland
United States
http://undiagnosed.hms.harvard.edu
Organization ID: 505999

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 248

Gene

GeneSubmissionsLast Updated
ABCA22Mar 27, 2018
ABCD11Mar 27, 2018
ACOX11Jul 17, 2018
ADNP1Mar 27, 2018
ADSSL11Jul 17, 2018
AFG3L21Mar 27, 2018
AGTPBP12Mar 27, 2018
AIFM11Nov 27, 2018
ALDH18A11Jul 17, 2018
ALG13Mar 27, 2018
ALG131Mar 27, 2018
ANTXR21Mar 27, 2018
ARID1B2Jul 17, 2018
ARV11Mar 27, 2018
ASXL11Nov 27, 2018
ASXL21Aug 4, 2017
ASXL31Mar 27, 2018
ATP1A31Mar 27, 2018
ATP5F1D1Mar 27, 2018
ATP6V1A1Jul 17, 2018
AUTS21Jul 17, 2018
BCKDK2Nov 27, 2018
BRAF1Mar 27, 2018
CACNA1A2Mar 27, 2018
CACNA1C1Mar 27, 2018
CAMK2B1Mar 27, 2018
CAPN12Jul 17, 2018
CDK131Mar 27, 2018
CDKL51Nov 27, 2018
CNTNAP11Mar 27, 2018
COG41Mar 27, 2018
COL2A11Nov 27, 2018
COL6A12Jul 17, 2018
COL7A12Mar 27, 2018
CTNNB11Nov 27, 2018
DDX3X1Mar 27, 2018
DES1Mar 27, 2018
DNAH112Aug 4, 2017
DYNC1H12Mar 27, 2018
DYRK1A1Nov 27, 2018
EBF31Jan 22, 2018
EED1Jul 17, 2018
EEF1A21Mar 27, 2018
EFL11Mar 27, 2018
EFTUD21Mar 27, 2018
EHMT11Mar 27, 2018
ENG1Jan 22, 2018
EVI51Mar 27, 2018
FA2H1Jul 17, 2018
FAS1Nov 27, 2018
FAT42Mar 27, 2018
FBN11Aug 4, 2017
FGF121Mar 27, 2018
FKRP2Mar 27, 2018
FOXG11Aug 4, 2017
GABRB21Jul 17, 2018
GABRG21Aug 4, 2017
GATAD2B1Jul 17, 2018
GCH11Mar 27, 2018
GDF111Mar 27, 2018
GFAP1Mar 27, 2018
GJB21Nov 27, 2018
GLYR12Mar 27, 2018
GNAO11Mar 27, 2018
GNAQ1Mar 27, 2018
GNAS1Jul 17, 2018
GRIN2A1Mar 27, 2018
H3F3A1Jul 17, 2018
HDAC81Jul 17, 2018
HECW21Mar 27, 2018
HEPACAM1Mar 27, 2018
HGSNAT2Mar 27, 2018
HNRNPK1Mar 27, 2018
HSPB81Jul 17, 2018
HUWE11Nov 27, 2018
IGHMBP22Mar 27, 2018
IQCB12Mar 27, 2018
IRF2BPL5Jul 17, 2018
JAG11Jul 17, 2018
KCNC11Jul 17, 2018
KCNMA11Nov 27, 2018
KCTD72Mar 27, 2018
KIF2A1Jul 17, 2018
KMT2A1Mar 27, 2018
KMT2B1Mar 27, 2018
LAMA13Jul 17, 2018
LZTR12Mar 27, 2018
MAGEL21Mar 27, 2018
MAPK8IP31Nov 27, 2018
MECP23Jul 17, 2018
MECR2Mar 27, 2018
MEF2C1Nov 27, 2018
MIPEP4Jul 17, 2018
MPV172Nov 27, 2018
MSTO12Mar 27, 2018
MTHFS2Mar 27, 2018
MTOR1Jul 17, 2018
MYBPC11Mar 27, 2018
NACC11Jan 22, 2018
NADK21Mar 27, 2018
NAGLU2Mar 27, 2018
NLRP121Mar 27, 2018
NLRP31Mar 27, 2018
NPHP11Aug 4, 2017
NR2F21Nov 27, 2018
NR5A11Aug 4, 2017
NRXN12Mar 27, 2018
OTUD42Aug 4, 2017
PEX11B2Aug 4, 2017
PEX62Nov 27, 2018
PIEZO22Mar 27, 2018
PKD11Jul 17, 2018
PLA2G62Jul 17, 2018
PMP222Nov 27, 2018
POLG5Nov 27, 2018
POMP1Mar 27, 2018
PPP3CA1Mar 27, 2018
PRELP1Jul 17, 2018
PRNP2Aug 4, 2017
PSEN11Mar 27, 2018
PTCH11Mar 27, 2018
PTPN111Mar 27, 2018
PURA1Mar 27, 2018
PYROXD11Mar 27, 2018
QRICH11Jul 17, 2018
RAD511Mar 27, 2018
RAI11Mar 27, 2018
RARS22Mar 27, 2018
RERE1Mar 27, 2018
RNASEH2A1Nov 27, 2018
RNU4ATAC2Jul 17, 2018
ROGDI2Aug 4, 2017
RPS6KA31Mar 27, 2018
SCARB21Aug 4, 2017
SCN1A1Nov 27, 2018
SCN2A1Mar 27, 2018
SCN4A2Aug 4, 2017
SDHD1Nov 27, 2018
SEPSECS2Mar 27, 2018
SLC20A23Jul 17, 2018
SLC25A421Nov 27, 2018
SLC35A21Aug 4, 2017
SLC52A32Aug 4, 2017
SMARCC21Mar 27, 2018
SNAPC42Mar 27, 2018
SNORD1182Mar 27, 2018
SOX111Nov 27, 2018
SPATA52Jul 17, 2018
SPG112Mar 27, 2018
SPG72Nov 27, 2018
SPI11Mar 27, 2018
SRCAP1Mar 27, 2018
STIM11Mar 27, 2018
STXBP11Nov 27, 2018
SYNE11Mar 27, 2018
SYNGAP11Mar 27, 2018
TANGO22Aug 4, 2017
TAX1BP32Nov 27, 2018
TBCK1Nov 27, 2018
TBX21Mar 27, 2018
TMEM942Nov 27, 2018
TOR1AIP12Mar 27, 2018
TRAF71Nov 27, 2018
TRIM81Jul 17, 2018
TRIP112Mar 27, 2018
TRIP121Mar 27, 2018
TSPEAR2Jul 17, 2018
TUBB4A1Aug 4, 2017
UBA54May 21, 2018
UNC801Aug 4, 2017
USP71Mar 27, 2018
VARS22Mar 27, 2018
WAC1Jul 17, 2018
ZC4H21Nov 27, 2018
ZMPSTE241Mar 27, 2018
ZNF2921Mar 27, 2018

Condition

NameSubmissionsLast Updated
2,4-Dienoyl-CoA reductase deficiency1Mar 27, 2018
46,XX sex reversal 41Aug 4, 2017
ABCA2-related condition2Mar 27, 2018
ACOX1-related condition1Jul 17, 2018
AGTPBP1-related condition2Mar 27, 2018
AIFM1-related hypomyelination with spondylometaphyseal dysplasia1Nov 27, 2018
AU-KLINE SYNDROME1Mar 27, 2018
Adrenoleukodystrophy1Mar 27, 2018
Aicardi Goutieres syndrome 41Nov 27, 2018
Alagille syndrome 11Jul 17, 2018
Alexander Disease1Mar 27, 2018
Alternating hemiplegia of childhood 21Mar 27, 2018
Alzheimer disease, type 31Mar 27, 2018
Arthrogryposis, distal, with impaired proprioception and touch2Mar 27, 2018
Autoimmune lymphoproliferative syndrome1Nov 27, 2018
Autosomal recessive Noonan-like syndrome due to compound heterozygous variants in LZTR12Mar 27, 2018
Bainbridge-Ropers syndrome1Mar 27, 2018
Bethlem myopathy 12Jul 17, 2018
Branched-chain keto acid dehydrogenase kinase deficiency2Nov 27, 2018
Brown-Vialetto-Van Laere syndrome 12Aug 4, 2017
C-like syndrome1Nov 27, 2018
CACNA1A-related condition1Mar 27, 2018
CACNA1C-related condition1Mar 27, 2018
COG4 related congenital disorder of glycosylation, autosomal dominant1Mar 27, 2018
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm1Aug 4, 2017
Capillary malformation1Mar 27, 2018
Cardiofaciocutaneous syndrome 11Mar 27, 2018
Cerebellar ataxia1Mar 27, 2018
Cerebellar atrophy1Mar 27, 2018
Charcot-Marie-Tooth disease, type IA1Nov 27, 2018
Chromosome 9q deletion syndrome1Mar 27, 2018
Ciliary dyskinesia, primary, 72Aug 4, 2017
Coffin-Lowry syndrome1Mar 27, 2018
Coffin-Siris syndrome 12Jul 17, 2018
Cohen-Gibson syndrome1Jul 17, 2018
Combined oxidative phosphorylation deficiency 202Mar 27, 2018
Combined oxidative phosphorylation deficiency 314Jul 17, 2018
Congenital disorder of glycosylation type 1K3Mar 27, 2018
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Mar 27, 2018
Congenital heart defects, multiple types, 41Nov 27, 2018
Cornelia de Lange syndrome 51Jul 17, 2018
Cortical dysplasia, complex, with other brain malformations 31Jul 17, 2018
Deafness, autosomal recessive 1A1Nov 27, 2018
Deafness-infertility syndrome1Nov 27, 2018
Decreased activity of mitochondrial ATP synthase complex1Mar 27, 2018
Desanto-shinawi syndrome1Jul 17, 2018
Distal myopathy1Jul 17, 2018
Dystonia 28, childhood-onset1Mar 27, 2018
Dystonia 5, Dopa-responsive type1Mar 27, 2018
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2Mar 27, 2018
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 11Mar 27, 2018
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 21Jul 17, 2018
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 31Jul 17, 2018
EVI5-related condition1Mar 27, 2018
Early infantile epileptic encephalopathy 21Nov 27, 2018
Early infantile epileptic encephalopathy 41Nov 27, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation1Mar 27, 2018
Epilepsy, hearing loss, and mental retardation syndrome2Jul 17, 2018
Epilepsy, progressive myoclonic 32Mar 27, 2018
Epilepsy, progressive myoclonic 4, with or without renal failure1Aug 4, 2017
Epilepsy, progressive myoclonic 71Jul 17, 2018
Epileptic encephalopathy, early infantile, 331Mar 27, 2018
Epileptic encephalopathy, early infantile, 361Mar 27, 2018
Epileptic encephalopathy, early infantile, 381Mar 27, 2018
Epileptic encephalopathy, early infantile, 444May 21, 2018
Epileptic encephalopathy, early infantile, 471Mar 27, 2018
Familial cold autoinflammatory syndrome 21Mar 27, 2018
Familial cold urticaria1Mar 27, 2018
Fanconi anemia, complementation group R1Mar 27, 2018
Floating-Harbor syndrome1Mar 27, 2018
GDF11-associated multiple congenital anomalies and ID1Mar 27, 2018
GLYR1-related condition2Mar 27, 2018
Generalized epilepsy and paroxysmal dyskinesia1Nov 27, 2018
Generalized epilepsy with febrile seizures plus, type 21Nov 27, 2018
Gorlin syndrome1Mar 27, 2018
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate1Mar 27, 2018
H3F3A-related condition1Jul 17, 2018
Helsmoortel-van der aa syndrome1Mar 27, 2018
Hereditary liability to pressure palsies1Jul 17, 2018
Hyaline fibromatosis syndrome1Mar 27, 2018
Hypotonia, ataxia, and delayed development syndrome1Jan 22, 2018
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Aug 4, 2017
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Nov 27, 2018
IGHMBP2-related condition2Mar 27, 2018
IRF2BPL-related condition5Jul 17, 2018
Idiopathic basal ganglia calcification 13Jul 17, 2018
Infantile neuroaxonal dystrophy2Jul 17, 2018
Intellectual disability1Mar 27, 2018
Kohlschutter's syndrome2Aug 4, 2017
Lethal congenital contracture syndrome 71Mar 27, 2018
Lethal tight skin contracture syndrome1Mar 27, 2018
Leukodystrophy, hypomyelinating, 61Aug 4, 2017
Leukoencephalopathy, brain calcifications, and cysts2Mar 27, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C52Mar 27, 2018
MAPK8IP3-related disorder1Nov 27, 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 541Mar 27, 2018
MPV17-related mitochondrial DNA maintenance defect2Nov 27, 2018
MTHFS-related condition2Mar 27, 2018
MTOR-related megalencephaly and pigmentary mosaicism in skin1Jul 17, 2018
MYBPC1-related condition1Mar 27, 2018
MYOPATHY, MITOCHONDRIAL, AND ATAXIA2Mar 27, 2018
Marfan syndrome1Aug 4, 2017
Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation1Mar 27, 2018
Mental retardation, X-linked 1021Mar 27, 2018
Mental retardation, X-linked, syndromic, turner type1Nov 27, 2018
Mental retardation, autosomal dominant 131Mar 27, 2018
Mental retardation, autosomal dominant 181Jul 17, 2018
Mental retardation, autosomal dominant 191Nov 27, 2018
Mental retardation, autosomal dominant 261Jul 17, 2018
Mental retardation, autosomal dominant 271Nov 27, 2018
Mental retardation, autosomal dominant 311Mar 27, 2018
Mental retardation, autosomal dominant 51Mar 27, 2018
Mental retardation, autosomal dominant 71Nov 27, 2018
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Nov 27, 2018
Mitochondrial DNA depletion syndrome2Jan 22, 2018
Motor neuropathy1Jul 17, 2018
Mucopolysaccharidosis, MPS-III-B2Mar 27, 2018
Mucopolysaccharidosis, MPS-III-C2Mar 27, 2018
Muscular Diseases2Aug 4, 2017
Muscular dystrophy, limb-girdle, type 2y2Mar 27, 2018
Myofibrillar myopathy 11Mar 27, 2018
Myopathy, distal, 51Jul 17, 2018
Myopathy, myofibrillar, 81Mar 27, 2018
Nephronophthisis 11Aug 4, 2017
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1Jan 22, 2018
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Mar 27, 2018
Neurodevelopmental disorder with involuntary movements1Mar 27, 2018
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Mar 27, 2018
Noonan syndrome 11Mar 27, 2018
Osler hemorrhagic telangiectasia syndrome1Jan 22, 2018
POLG-related condition1Nov 27, 2018
POMP-related condition1Mar 27, 2018
PRELP-related osteosclerosis1Jul 17, 2018
Paragangliomas 11Nov 27, 2018
Peroxisome biogenesis disorder 14B2Aug 4, 2017
Peroxisome biogenesis disorder 4B2Nov 27, 2018
Pitt-Hopkins-like syndrome 22Mar 27, 2018
Polycystic kidney disease, adult type1Jul 17, 2018
Pontocerebellar hypoplasia type 2D2Mar 27, 2018
Pontocerebellar hypoplasia type 62Mar 27, 2018
Poretti-Boltshauser syndrome3Jul 17, 2018
Primary progressive multiple sclerosis2Jan 22, 2018
Progressive sclerosing poliodystrophy2Jul 17, 2018
Pseudopseudohypoparathyroidism1Jul 17, 2018
Recessive dystrophic epidermolysis bullosa2Mar 27, 2018
Rett syndrome3Jul 17, 2018
Rett syndrome, congenital variant1Aug 4, 2017
Roifman syndrome2Jul 17, 2018
SCN2A-related condition1Mar 27, 2018
SLC25A42-related mitochondrial encephalomyopathy1Nov 27, 2018
SMARCC2-related condition1Mar 27, 2018
SNAPC4-associated inflammatory disease2Mar 27, 2018
SPI1-related eosinophilia syndrome1Mar 27, 2018
Schaaf-yang syndrome1Mar 27, 2018
Senior-Loken syndrome 31Aug 4, 2017
Senior-Loken syndrome 52Mar 27, 2018
Shashi-Pena syndrome1Aug 4, 2017
Shwachman-Diamond-like syndrome1Mar 27, 2018
Smith-Magenis syndrome1Mar 27, 2018
Spastic paraplegia 11, autosomal recessive2Mar 27, 2018
Spastic paraplegia 351Jul 17, 2018
Spastic paraplegia 72Nov 27, 2018
Spastic paraplegia 76, autosomal recessive2Jul 17, 2018
Spastic paraplegia 91Jul 17, 2018
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Mar 27, 2018
Spinocerebellar ataxia 281Mar 27, 2018
Spinocerebellar ataxia, autosomal recessive 242May 21, 2018
Spinocerebellar ataxia, autosomal recessive 81Mar 27, 2018
Spongiform encephalopathy with neuropsychiatric features2Aug 4, 2017
Stickler syndrome type 11Nov 27, 2018
Stormorken syndrome1Mar 27, 2018
Sturge-Weber syndrome1Mar 27, 2018
Systemic lupus erythematosus1Jan 22, 2018
TANGO2-Related Metabolic Encephalopathy and Arrhythmias2Aug 4, 2017
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy2Nov 27, 2018
TBX2-related condition1Mar 27, 2018
TMEM94-related condition2Nov 27, 2018
TRAF7-related developmental delay, congenital anomalies, and dysmorphic features1Nov 27, 2018
TRIM8-related epileptic encephalopathy1Jul 17, 2018
TRIP11-related condition2Mar 27, 2018
TRIP12 associated autism with facial dysmorphology1Mar 27, 2018
TSPEAR-related disorder of tooth and hair follicle morphogenesis2Jul 17, 2018
USP7-related condition1Mar 27, 2018
VERVERI-BRADY SYNDROME1Jul 17, 2018
Van Maldergem syndrome 22Mar 27, 2018
Wieacker Wolff syndrome1Nov 27, 2018
Wiedemann-Steiner syndrome1Mar 27, 2018
ZNF292-related neurodevelopmental condition1Mar 27, 2018
not specified3Aug 4, 2017
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