Elsea Laboratory (Baylor College of Medicine)

General information

Elsea Laboratory
Baylor College of Medicine
One Baylor Plaza, R731
Houston
Texas
United States - 77030

Organization ID: 242449

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 147

Gene

GeneSubmissionsLast Updated
AASS2Apr 7, 2020
ABAT6Feb 19, 2019
ABCC81Apr 7, 2020
ABCD41Apr 7, 2020
ABHD14A-ACY13Apr 7, 2020
ABHD51Apr 7, 2020
ACADL2Apr 7, 2020
ACADM1Apr 7, 2020
ACADS1Apr 7, 2020
ACADSB1Apr 7, 2020
ACVR2A4Feb 5, 2016
ACY13Apr 7, 2020
ALDH4A11Apr 7, 2020
ALDH5A12Apr 7, 2020
ALDH7A12Apr 7, 2020
ALDOB2Apr 7, 2020
ARG12Apr 7, 2020
ASS11Apr 7, 2020
AUH2Apr 7, 2020
BCKDHA1Apr 7, 2020
BCKDHB1Apr 7, 2020
BTD3Apr 7, 2020
CPS11Apr 7, 2020
D2HGDH1Apr 7, 2020
DDC3Apr 7, 2020
DDC-AS12Apr 7, 2020
DGAT12Apr 7, 2020
DHTKD13Apr 7, 2020
DMGDH1Apr 7, 2020
DPYD1Apr 7, 2020
ECHS12Apr 7, 2020
EPC22Feb 5, 2016
FAR12Apr 7, 2020
GALT1Apr 7, 2020
GAMT1Apr 7, 2020
GCH12Apr 7, 2020
GLDC4Apr 7, 2020
GLYCTK2Apr 7, 2020
GTDC11Feb 5, 2016
HACL11Apr 7, 2020
HDAC42Sep 4, 2020
HIBCH6Apr 7, 2020
HPRT11Apr 7, 2020
HSD17B101Apr 7, 2020
HSD17B42Apr 7, 2020
HTRA21Apr 7, 2020
KIF5C1Feb 5, 2016
KYNU1Feb 5, 2016
LIPA1Apr 7, 2020
LIPT12Apr 7, 2020
LRP1B1Feb 5, 2016
MBD59Feb 5, 2016
MCCC11Apr 7, 2020
MCCC21Apr 7, 2020
MED232Apr 7, 2020
MITD12Apr 7, 2020
MMACHC4Apr 7, 2020
MMUT5Apr 7, 2020
MOCS11Apr 7, 2020
MTHFR1Apr 7, 2020
MTR3Apr 7, 2020
NAGS2Apr 7, 2020
ORC46Feb 5, 2016
OXCT11Apr 7, 2020
PAH2Apr 7, 2020
PCCB1Apr 7, 2020
PDHA12Apr 7, 2020
PEX13Apr 7, 2020
PEX131Apr 7, 2020
PEX162Apr 7, 2020
PEX21Apr 7, 2020
PEX262Apr 7, 2020
PEX31Apr 7, 2020
PEX53Apr 7, 2020
PEX61Apr 7, 2020
PGK11Apr 7, 2020
PYY2Apr 7, 2020
SERAC11Apr 7, 2020
SLC22A51Apr 7, 2020
SLC52A21Jun 26, 2020
SLC6A192Apr 7, 2020
SUCLG12Apr 7, 2020
TALDO11Apr 7, 2020
TJP22Apr 7, 2020
TRMU2Apr 7, 2020
UPB14Apr 7, 2020
UROC13Apr 7, 2020
ZEB21Feb 5, 2016

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria3Apr 7, 2020
3 Methylcrotonyl-CoA carboxylase 1 deficiency1Apr 7, 2020
3-Methylglutaconic aciduria type 12Apr 7, 2020
3-methylcrotonyl CoA carboxylase 2 deficiency1Apr 7, 2020
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Apr 7, 2020
3-methylglutaconic aciduria, type VIII1Apr 7, 2020
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2Apr 7, 2020
Aminoacylase 1 deficiency3Apr 7, 2020
Arginase deficiency2Apr 7, 2020
Beta-hydroxyisobutyryl-CoA deacylase deficiency6Apr 7, 2020
Bifunctional peroxisomal enzyme deficiency2Apr 7, 2020
Biotinidase deficiency3Apr 7, 2020
Brown-Vialetto-Van Laere syndrome 21Jun 26, 2020
Citrullinemia type I1Apr 7, 2020
Cobalamin C disease4Apr 7, 2020
Congenital hyperammonemia, type I1Apr 7, 2020
D-2-hydroxyglutaric aciduria 11Apr 7, 2020
D-Glyceric aciduria2Apr 7, 2020
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Apr 7, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Apr 7, 2020
Deficiency of aromatic-L-amino-acid decarboxylase3Apr 7, 2020
Deficiency of beta-ureidopropionase4Apr 7, 2020
Deficiency of butyryl-CoA dehydrogenase1Apr 7, 2020
Deficiency of guanidinoacetate methyltransferase1Apr 7, 2020
Deficiency of pyrroline-5-carboxylate reductase1Apr 7, 2020
Deficiency of transaldolase1Apr 7, 2020
Diarrhea 72Apr 7, 2020
Dihydropyrimidine dehydrogenase deficiency1Apr 7, 2020
Dimethylglycine dehydrogenase deficiency1Apr 7, 2020
Dystonia 52Apr 7, 2020
GTP cyclohydrolase I deficiency2Apr 7, 2020
Gamma-aminobutyric acid transaminase deficiency6Feb 19, 2019
HSD10 disease1Apr 7, 2020
Heimler syndrome 12Apr 7, 2020
Hereditary fructosuria2Apr 7, 2020
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Apr 7, 2020
Hyperammonemia, type III2Apr 7, 2020
Hypercholanemia, familial2Apr 7, 2020
Hyperglycinuria2Apr 7, 2020
Hyperinsulinemic hypoglycemia, familial, 11Apr 7, 2020
Hyperlysinemia2Apr 7, 2020
Iminoglycinuria2Apr 7, 2020
Intellectual disability, profound1Sep 4, 2020
Intellectual disability, severe1Sep 4, 2020
Lesch-Nyhan syndrome1Apr 7, 2020
Leucine-induced hypoglycemia1Apr 7, 2020
Lipoyltransferase 1 deficiency2Apr 7, 2020
Long chain acyl-CoA dehydrogenase deficiency2Apr 7, 2020
Lysosomal acid lipase deficiency1Apr 7, 2020
MBD5 associated neurodevelopmental disorder11Feb 5, 2016
Maple syrup urine disease2Apr 7, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Apr 7, 2020
Methylcobalamin deficiency type cblG3Apr 7, 2020
Methylmalonic acidemia with homocystinuria, type cblJ1Apr 7, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency5Apr 7, 2020
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)2Apr 7, 2020
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency2Apr 7, 2020
Molybdenum cofactor deficiency, complementation group A1Apr 7, 2020
Neutral 1 amino acid transport defect2Apr 7, 2020
Non-ketotic hyperglycinemia4Apr 7, 2020
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1Apr 7, 2020
Permanent neonatal diabetes mellitus1Apr 7, 2020
Peroxisomal fatty acyl-coa reductase 1 disorder2Apr 7, 2020
Peroxisome biogenesis disorder 10A1Apr 7, 2020
Peroxisome biogenesis disorder 11A1Apr 7, 2020
Peroxisome biogenesis disorder 11B1Apr 7, 2020
Peroxisome biogenesis disorder 1A (Zellweger)3Apr 7, 2020
Peroxisome biogenesis disorder 1B3Apr 7, 2020
Peroxisome biogenesis disorder 2A (Zellweger)3Apr 7, 2020
Peroxisome biogenesis disorder 2B3Apr 7, 2020
Peroxisome biogenesis disorder 4B1Apr 7, 2020
Peroxisome biogenesis disorder 4a (zellweger)1Apr 7, 2020
Peroxisome biogenesis disorder 5B1Apr 7, 2020
Peroxisome biogenesis disorder 5a (zellweger)1Apr 7, 2020
Peroxisome biogenesis disorder 7A2Apr 7, 2020
Peroxisome biogenesis disorder 7B2Apr 7, 2020
Peroxisome biogenesis disorder 8A2Apr 7, 2020
Peroxisome biogenesis disorder 8B2Apr 7, 2020
Perrault syndrome 12Apr 7, 2020
Phenylketonuria2Apr 7, 2020
Phosphoglycerate kinase 1 deficiency1Apr 7, 2020
Progressive familial intrahepatic cholestasis 42Apr 7, 2020
Propionic acidemia1Apr 7, 2020
Pyridoxine-dependent epilepsy2Apr 7, 2020
Pyruvate dehydrogenase E1-alpha deficiency2Apr 7, 2020
Renal carnitine transport defect1Apr 7, 2020
Rhizomelic chondrodysplasia punctata type 52Apr 7, 2020
Saccharopinuria2Apr 7, 2020
Succinate-semialdehyde dehydrogenase deficiency2Apr 7, 2020
Succinyl-CoA acetoacetate transferase deficiency1Apr 7, 2020
Transient neonatal diabetes mellitus 21Apr 7, 2020
Triglyceride storage disease with ichthyosis1Apr 7, 2020
Type 2 diabetes mellitus1Apr 7, 2020
Urocanate hydratase deficiency3Apr 7, 2020

Testing in GTR

Disease nameNumber of tests
Autism spectrum disorder1 test
Chromosome 2q23.1 deletion syndrome1 test
Chromosome 2q23.1 duplication syndrome1 test
Chromosome 2q37 deletion syndrome1 test
Deficiency of aromatic-L-amino-acid decarboxylase1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
Mental retardation, autosomal dominant 11 test
Pitt-Hopkins syndrome1 test
Potocki-Lupski syndrome1 test
Smith-Magenis syndrome1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Support Center