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Oxford Medical Genetics Laboratories (Oxford University Hospitals NHS Trust)

General information

Oxford Medical Genetics Laboratories
Oxford University Hospitals NHS Trust
The Churchill Hospital; Old Road
Oxford
Oxfordshire
United Kingdom - OX3 7LE
http://ouh.oxnet.nhs.uk/Cytolab/Team/Pages/Default.aspx
Organization ID: 505647

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 104

Gene

GeneSubmissionsLast Updated
ABCB42Mar 23, 2023
ACTC11Mar 23, 2023
AGRN1Jun 9, 2019
ALG131Mar 23, 2023
ANK11Mar 23, 2023
APP1Mar 23, 2023
ARX1Mar 23, 2023
ATP8B12Mar 23, 2023
ATP8B1-AS12Mar 23, 2023
BMP41Mar 23, 2023
BMP62Mar 23, 2023
C17orf1072Mar 23, 2023
CACNA1A1Jun 9, 2019
CFI2Mar 23, 2023
CHRNE3Mar 23, 2023
COG71Mar 23, 2023
COLQ2Jun 9, 2019
CTPS11Jun 9, 2019
DHRS31Mar 23, 2023
DOCK111Mar 23, 2023
DOCK71Mar 23, 2023
DOCK86Aug 28, 2015
DST1Mar 23, 2023
FBN11Mar 23, 2023
FLNA1Mar 23, 2023
FLNC1Jun 9, 2019
FLNC-AS11Jun 9, 2019
FOXD31Mar 23, 2023
G6PC31Mar 23, 2023
GATA21Mar 23, 2023
GJD2-DT1Mar 23, 2023
HDLBP1Mar 23, 2023
HSD3B72Mar 23, 2023
INPP5D1Mar 23, 2023
IRAK42Mar 23, 2023
KCNQ11Mar 23, 2023
KCNT11Jun 9, 2019
KDM2B1Mar 23, 2023
KIF111Jun 9, 2019
KIF5C1Mar 23, 2023
KMT2E1Mar 23, 2023
KPTN1Jun 9, 2019
LEMD31Mar 23, 2023
LOC1073033404Mar 23, 2023
LOC1268060681Mar 23, 2023
LOC1268605521Aug 28, 2015
LOC1268621241Mar 23, 2023
LZTR11Jun 9, 2019
MCM102Mar 23, 2023
NPAS41Mar 23, 2023
NPHP32Mar 23, 2023
NPHP3-ACAD112Mar 23, 2023
NTRK31Mar 23, 2023
PAPSS21Jun 9, 2019
PAX21Mar 23, 2023
PIK3CA1Mar 23, 2023
PKDCC1Nov 15, 2022
POLR2A1Mar 23, 2023
POR1Mar 23, 2023
PRKAG21Jun 9, 2019
PSTPIP11Mar 23, 2023
PTPRC1Jun 9, 2019
RMND11Mar 23, 2023
RTTN2Mar 23, 2023
RYR21Mar 23, 2023
SAMD9L1Mar 23, 2023
SEC23B2Mar 23, 2023
SLC30A101Mar 23, 2023
SLC34A12Mar 23, 2023
SLC39A131Mar 23, 2023
SLC4A11Mar 23, 2023
SLC5A71Mar 23, 2023
SPAST1Jun 9, 2019
SPG72Jun 9, 2019
STX1B2Mar 23, 2023
SYNGAP11Jun 9, 2019
SYNGAP1-AS11Jun 9, 2019
TNNI21Mar 23, 2023
TNNT31Jun 9, 2019
TP631Jun 9, 2019
TUBA1A1Mar 23, 2023
TUBB2B1Mar 23, 2023
TYR2Mar 23, 2023
UBE2Q21Mar 23, 2023
VDAC21Mar 23, 2023
VHL4Mar 23, 2023
WDFY31Mar 23, 2023
WDFY3-AS11Mar 23, 2023
WDR451Jun 9, 2019
WWOX2Mar 23, 2023

Condition

NameSubmissionsLast Updated
Aicardi syndrome1Mar 23, 2023
Arthrogryposis, distal, type 2B21Jun 9, 2019
Ataxia-pancytopenia syndrome1Mar 23, 2023
Autosomal dominant distal renal tubular acidosis1Mar 23, 2023
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1Mar 23, 2023
Benign recurrent intrahepatic cholestasis type 12Mar 23, 2023
COG7 congenital disorder of glycosylation1Mar 23, 2023
Chuvash polycythemia3Mar 23, 2023
Combined immunodeficiency due to DOCK8 deficiency6Aug 28, 2015
Combined oxidative phosphorylation defect type 111Mar 23, 2023
Complex cortical dysplasia with other brain malformations 21Mar 23, 2023
Complex cortical dysplasia with other brain malformations 71Mar 23, 2023
Congenital Erythrocytosis2Mar 23, 2023
Congenital dyserythropoietic anemia3Mar 23, 2023
Congenital dyserythropoietic anemia, type II2Mar 23, 2023
Congenital myasthenic syndrome 201Mar 23, 2023
Congenital myasthenic syndrome 4C3Mar 23, 2023
Congenital myasthenic syndrome 52Jun 9, 2019
Congenital myasthenic syndrome 81Jun 9, 2019
Craniosynostosis syndrome3Mar 23, 2023
Developmental and epileptic encephalopathy, 141Jun 9, 2019
Developmental and epileptic encephalopathy, 231Mar 23, 2023
Developmental and epileptic encephalopathy, 282Mar 23, 2023
Developmental and epileptic encephalopathy, 361Mar 23, 2023
Developmental and epileptic encephalopathy, 421Jun 9, 2019
Dilated cardiomyopathy 1R1Mar 23, 2023
Distal arthrogryposis type 2B11Mar 23, 2023
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31Jun 9, 2019
Factor I deficiency2Mar 23, 2023
Familial focal epilepsy with variable foci1Mar 23, 2023
Fetal Cardiomyopathy2Mar 23, 2023
Fibrotic kidney disease2Mar 23, 2023
Fine-Lubinsky syndrome3Mar 23, 2023
Gorham-Stout disease1Mar 23, 2023
Hereditary sensory and autonomic neuropathy type 61Mar 23, 2023
Hereditary spastic paraplegia 41Jun 9, 2019
Hereditary spastic paraplegia 72Jun 9, 2019
Hereditary spherocytosis type 11Mar 23, 2023
Heterotopia, periventricular, X-linked dominant1Mar 23, 2023
Hypercalcemia, infantile, 22Mar 23, 2023
Hypertrophic cardiomyopathy 261Jun 9, 2019
Immunodeficiency 1041Jun 9, 2019
Intellectual disability, autosomal dominant 51Jun 9, 2019
Kapur-Toriello syndrome1Mar 23, 2023
Klippel-Trenaunay-like-Syndrome1Mar 23, 2023
Lethal congenital glycogen storage disease of heart1Jun 9, 2019
Lissencephaly due to TUBA1A mutation1Mar 23, 2023
Long QT syndrome 11Mar 23, 2023
Macrocephaly-developmental delay syndrome1Jun 9, 2019
Marfan syndrome1Mar 23, 2023
Microcephalic primordial dwarfism due to RTTN deficiency2Mar 23, 2023
Microcephaly1Mar 23, 2023
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Jun 9, 2019
Monocytopenia with susceptibility to infections1Mar 23, 2023
Neonatal cardiomyopathy1Mar 23, 2023
Neonatal hemochromatosis4Mar 23, 2023
Neurodegeneration with brain iron accumulation 51Jun 9, 2019
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Mar 23, 2023
Noonan syndrome 21Jun 9, 2019
O'Donnell-Luria-Rodan syndrome1Mar 23, 2023
Oculocutaneous albinism type 1B2Mar 23, 2023
Paroxysmal familial ventricular fibrillation1Mar 23, 2023
Progressive familial intrahepatic cholestasis type 32Mar 23, 2023
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1Mar 23, 2023
Rhizomelic limb shortening with dysmorphic features1Nov 15, 2022
See cases3Mar 23, 2023
Severe combined immunodeficiency disease3Mar 23, 2023
Severe combined immunodeficiency due to CTPS1 deficiency1Jun 9, 2019
Spondyloepimetaphyseal dysplasia, PAPSS2 type1Jun 9, 2019