Elsea Laboratory (Baylor College of Medicine)
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 251
Gene
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 |
GTDC1 | 1 | Feb 5, 2016 |
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 |
SERAC1 | 1 | Apr 7, 2020 |
SLC22A5 | 1 | Apr 7, 2020 |
SLC52A2 | 1 | Jun 26, 2020 |
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
Testing in GTR
Disease name | Number of tests |
---|---|
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 | 1 test |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 test |
Intellectual disability, autosomal dominant 1 | 1 test |
Pitt-Hopkins syndrome | 1 test |
Potocki-Lupski syndrome | 1 test |
Smith-Magenis syndrome | 1 test |
Succinate-semialdehyde dehydrogenase deficiency | 1 test |