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ClinVar

Relating variation to medicine

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: 252

Gene

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Gene	Submissions	Last Updated
AASS	2	Apr 7, 2020
ABAT	6	Feb 19, 2019
ABCC8	1	Apr 7, 2020
ABCD4	1	Apr 7, 2020
ABHD14A-ACY1	3	Apr 7, 2020
ABHD5	1	Apr 7, 2020
ACADL	2	Apr 7, 2020
ACADM	1	Apr 7, 2020
ACADS	1	Apr 7, 2020
ACADSB	1	Apr 7, 2020
ACVR2A	4	Feb 5, 2016
ACY1	3	Apr 7, 2020
ALDH4A1	1	Apr 7, 2020
ALDH5A1	105	May 16, 2024
ALDH7A1	2	Apr 7, 2020
ALDOB	2	Apr 7, 2020
ARG1	2	Apr 7, 2020
ASS1	1	Apr 7, 2020
AUH	2	Apr 7, 2020
BCKDHA	1	Apr 7, 2020
BCKDHB	1	Apr 7, 2020
BTD	3	Apr 7, 2020
CPS1	1	Apr 7, 2020
D2HGDH	1	Apr 7, 2020
DDC	3	Apr 7, 2020
DDC-AS1	2	Apr 7, 2020
DGAT1	2	Apr 7, 2020
DHTKD1	3	Apr 7, 2020
DMGDH	1	Apr 7, 2020
DPYD	1	Apr 7, 2020
ECHS1	2	Apr 7, 2020
EPC2	2	Feb 5, 2016
FAR1	2	Apr 7, 2020
GALT	1	Apr 7, 2020
GAMT	1	Apr 7, 2020
GCH1	2	Apr 7, 2020
GLDC	4	Apr 7, 2020
GLYCTK	2	Apr 7, 2020
GPLD1	13	May 16, 2024
HACL1	1	Apr 7, 2020
HDAC4	2	Sep 4, 2020
HIBCH	6	Apr 7, 2020
HPRT1	1	Apr 7, 2020
HSD17B10	1	Apr 7, 2020
HSD17B4	2	Apr 7, 2020
HTRA2	1	Apr 7, 2020
KIF5C	1	Feb 5, 2016
KYNU	1	Feb 5, 2016
LIPA	1	Apr 7, 2020
LIPT1	2	Apr 7, 2020
LOC129934143	1	Apr 7, 2020
LOC129995978	14	May 16, 2024
LOC130001383	1	Apr 7, 2020
LOC130055692	1	Apr 7, 2020
LOC130062945	1	Apr 7, 2020
LRP1B	1	Feb 5, 2016
MBD5	9	Feb 5, 2016
MCCC1	1	Apr 7, 2020
MCCC2	1	Apr 7, 2020
MED23	2	Apr 7, 2020
MITD1	2	Apr 7, 2020
MMACHC	4	Apr 7, 2020
MMUT	5	Apr 7, 2020
MOCS1	1	Apr 7, 2020
MTHFR	1	Apr 7, 2020
MTR	3	Apr 7, 2020
NAGS	2	Apr 7, 2020
ORC4	6	Feb 5, 2016
OTC	1	May 16, 2024
OXCT1	1	Apr 7, 2020
PAH	2	Apr 7, 2020
PCCB	1	Apr 7, 2020
PDHA1	2	Apr 7, 2020
PEX1	3	Apr 7, 2020
PEX13	1	Apr 7, 2020
PEX16	2	Apr 7, 2020
PEX2	1	Apr 7, 2020
PEX26	2	Apr 7, 2020
PEX3	1	Apr 7, 2020
PEX5	3	Apr 7, 2020
PEX6	1	Apr 7, 2020
PGK1	1	Apr 7, 2020
PYY	2	Apr 7, 2020
QTMAN	1	Feb 5, 2016
SERAC1	1	Apr 7, 2020
SLC22A5	1	Apr 7, 2020
SLC52A2	1	Jun 26, 2020
SLC5A6	1	Dec 23, 2024
SLC6A19	2	Apr 7, 2020
SUCLG1	2	Apr 7, 2020
TALDO1	1	Apr 7, 2020
TJP2	2	Apr 7, 2020
TRMU	2	Apr 7, 2020
UPB1	4	Apr 7, 2020
UROC1	3	Apr 7, 2020
ZEB2	1	Feb 5, 2016

Condition

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Name	Submissions	Last Updated
2-aminoadipic 2-oxoadipic aciduria	3	Apr 7, 2020
3-hydroxyisobutyryl-CoA hydrolase deficiency	6	Apr 7, 2020
3-methylcrotonyl-CoA carboxylase 1 deficiency	1	Apr 7, 2020
3-methylcrotonyl-CoA carboxylase 2 deficiency	1	Apr 7, 2020
3-methylglutaconic aciduria type 1	2	Apr 7, 2020
3-methylglutaconic aciduria type 8	1	Apr 7, 2020
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	1	Apr 7, 2020
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	2	Apr 7, 2020
Aminoacylase 1 deficiency	3	Apr 7, 2020
Arginase deficiency	2	Apr 7, 2020
Bifunctional peroxisomal enzyme deficiency	2	Apr 7, 2020
Biotinidase deficiency	3	Apr 7, 2020
Brown-Vialetto-van Laere syndrome 2	1	Jun 26, 2020
Cholestasis, progressive familial intrahepatic, 4	2	Apr 7, 2020
Citrullinemia type I	1	Apr 7, 2020
Cobalamin C disease	4	Apr 7, 2020
Congenital diarrhea 7 with exudative enteropathy	2	Apr 7, 2020
Congenital hyperammonemia, type I	1	Apr 7, 2020
D-2-hydroxyglutaric aciduria 1	1	Apr 7, 2020
D-Glyceric aciduria	2	Apr 7, 2020
Deficiency of 2-methylbutyryl-CoA dehydrogenase	1	Apr 7, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	1	Apr 7, 2020
Deficiency of aromatic-L-amino-acid decarboxylase	3	Apr 7, 2020
Deficiency of beta-ureidopropionase	4	Apr 7, 2020
Deficiency of butyryl-CoA dehydrogenase	1	Apr 7, 2020
Deficiency of guanidinoacetate methyltransferase	1	Apr 7, 2020
Deficiency of transaldolase	1	Apr 7, 2020
Diabetes mellitus, transient neonatal, 2	1	Apr 7, 2020
Dihydropyrimidine dehydrogenase deficiency	1	Apr 7, 2020
Dimethylglycine dehydrogenase deficiency	1	Apr 7, 2020
Dystonia 5	2	Apr 7, 2020
Fatty acyl-CoA reductase 1 deficiency	2	Apr 7, 2020
GTP cyclohydrolase I deficiency	2	Apr 7, 2020
Gamma-aminobutyric acid transaminase deficiency	6	Feb 19, 2019
Glycine encephalopathy	4	Apr 7, 2020
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	1	Apr 7, 2020
HSD10 mitochondrial disease	1	Apr 7, 2020
Heimler syndrome 1	2	Apr 7, 2020
Hereditary fructosuria	2	Apr 7, 2020
Homocystinuria due to methylene tetrahydrofolate reductase deficiency	1	Apr 7, 2020
Hyperammonemia, type III	2	Apr 7, 2020
Hypercholanemia, familial 1	2	Apr 7, 2020
Hyperglycinuria	2	Apr 7, 2020
Hyperinsulinemic hypoglycemia, familial, 1	1	Apr 7, 2020
Hyperlysinemia	2	Apr 7, 2020
Hyperprolinemia type 2	1	Apr 7, 2020
Iminoglycinuria	2	Apr 7, 2020
Lesch-Nyhan syndrome	1	Apr 7, 2020
Leucine-induced hypoglycemia	1	Apr 7, 2020
Lipoyl transferase 1 deficiency	2	Apr 7, 2020
Long chain acyl-CoA dehydrogenase deficiency	2	Apr 7, 2020
Lysosomal acid lipase deficiency	1	Apr 7, 2020
MBD5 associated neurodevelopmental disorder	11	Feb 5, 2016
Maple syrup urine disease	2	Apr 7, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency	1	Apr 7, 2020
Methylcobalamin deficiency type cblG	3	Apr 7, 2020
Methylmalonic acidemia with homocystinuria, type cblJ	1	Apr 7, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	5	Apr 7, 2020
Mitochondrial DNA depletion syndrome 9	2	Apr 7, 2020
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	2	Apr 7, 2020
Neurodegeneration, infantile-onset, biotin-responsive	1	Dec 23, 2024
Neutral 1 amino acid transport defect	2	Apr 7, 2020
Ornithine carbamoyltransferase deficiency	1	May 16, 2024
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	1	Apr 7, 2020
Permanent neonatal diabetes mellitus	1	Apr 7, 2020
Peroxisome biogenesis disorder 10A (Zellweger)	1	Apr 7, 2020
Peroxisome biogenesis disorder 11A (Zellweger)	1	Apr 7, 2020
Peroxisome biogenesis disorder 11B	1	Apr 7, 2020
Peroxisome biogenesis disorder 1A (Zellweger)	3	Apr 7, 2020
Peroxisome biogenesis disorder 1B	3	Apr 7, 2020
Peroxisome biogenesis disorder 2A (Zellweger)	3	Apr 7, 2020
Peroxisome biogenesis disorder 2B	3	Apr 7, 2020
Peroxisome biogenesis disorder 4A (Zellweger)	1	Apr 7, 2020
Peroxisome biogenesis disorder 4B	1	Apr 7, 2020
Peroxisome biogenesis disorder 5A (Zellweger)	1	Apr 7, 2020
Peroxisome biogenesis disorder 5B	1	Apr 7, 2020
Peroxisome biogenesis disorder 7A (Zellweger)	2	Apr 7, 2020
Peroxisome biogenesis disorder 7B	2	Apr 7, 2020
Peroxisome biogenesis disorder 8A (Zellweger)	2	Apr 7, 2020
Peroxisome biogenesis disorder 8B	2	Apr 7, 2020
Perrault syndrome 1	2	Apr 7, 2020
Phenylketonuria	2	Apr 7, 2020
Profound intellectual disability	1	Sep 4, 2020
Propionic acidemia	1	Apr 7, 2020
Pyridoxine-dependent epilepsy	2	Apr 7, 2020
Pyruvate dehydrogenase E1-alpha deficiency	2	Apr 7, 2020
Renal carnitine transport defect	1	Apr 7, 2020
Rhizomelic chondrodysplasia punctata type 5	2	Apr 7, 2020
Saccharopinuria	2	Apr 7, 2020
Severe intellectual disability	1	Sep 4, 2020
Succinate-semialdehyde dehydrogenase deficiency	105	May 16, 2024
Succinyl-CoA acetoacetate transferase deficiency	1	Apr 7, 2020
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	1	Apr 7, 2020
Triglyceride storage disease with ichthyosis	1	Apr 7, 2020
Type 2 diabetes mellitus	1	Apr 7, 2020
Urocanate hydratase deficiency	3	Apr 7, 2020

Testing in GTR

Disease name	Number of tests
17p11.2 microduplication syndrome	1 test
2q23.1 microdeletion syndrome	1 test
2q23.1 microduplication syndrome	1 test
Acid sphingomyelinase deficiency	1 test
Autism spectrum disorder	1 test
Chromosome 2q23.1 deletion syndrome	1 test
Chromosome 2q23.1 duplication syndrome	1 test
Chromosome 2q37 deletion syndrome	1 test
Deficiency of aromatic-L-amino-acid decarboxylase	2 tests
Developmental delay with variable intellectual impairment and behavioral abnormalities	1 test
Hereditary orotic aciduria	1 test
Intellectual disability, autosomal dominant 1	1 test
Niemann-Pick disease, type C	1 test
Pitt-Hopkins syndrome	1 test
Pyridoxine-dependent epilepsy	1 test
Smith-Magenis syndrome	1 test
Succinate-semialdehyde dehydrogenase deficiency	2 tests